dbVar Variant Summary

Here you will find a summary of dbVar variant types and links to more details in the Study and Variant Pages. Refer to dbVar Overview for an Overview of dbVar and description of all the types and pages,

Last updated: Thursday, March 25, 2021.

Please note: You can link to counts for specific studies in the sections following "All Studies", for example:

All Studies

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex chromosomal rearrangement14249copy number gain16nssv13660481"copy number gain"[variant_type]
copy number loss37nssv13660625"copy number loss"[variant_type]
deletion1799essv16645733"deletion"[variant_type]
interchromosomal translocation12024nssv15745562"interchromosomal translocation"[variant_type]
intrachromosomal translocation2076nssv15745559"intrachromosomal translocation"[variant_type]
inversion88nssv13660509"inversion"[variant_type]
complex substitution19730complex substitution62311nssv624375"complex substitution"[variant_type]
deletion10129nssv1671983"deletion"[variant_type]
delins15nssv7487149"delins"[variant_type]
duplication6054essv5161201"duplication"[variant_type]
interchromosomal translocation2essv16639675"interchromosomal translocation"[variant_type]
inversion8nssv624360"inversion"[variant_type]
copy number variation3034866alu deletion2937nssv14063478"alu deletion"[variant_type]
complex substitution191essv27860"complex substitution"[variant_type]
copy number gain1352822nssv999467"copy number gain"[variant_type]
copy number loss2567252nssv999999"copy number loss"[variant_type]
copy number variation1186828nssv8641364"copy number variation"[variant_type]
copy-neutral loss of heterozygosity8nssv459409"copy-neutral loss of heterozygosity"[variant_type]
deletion14112095nssv99999"deletion"[variant_type]
duplication2044075nssv8640032"duplication"[variant_type]
intrachromosomal translocation4essv16638008"intrachromosomal translocation"[variant_type]
line1 deletion205nssv14063405"line1 deletion"[variant_type]
copy-neutral loss of heterozygosity26copy-neutral loss of heterozygosity26nssv13638310"copy-neutral loss of heterozygosity"[variant_type]
delins3463delins1104629nssv8639995"delins"[variant_type]
insertion1425910insertion1689283nssv99998"insertion"[variant_type]
inversion16470deletion1essv16581090"deletion"[variant_type]
interchromosomal translocation5essv16640986"interchromosomal translocation"[variant_type]
intrachromosomal translocation5essv16643495"intrachromosomal translocation"[variant_type]
inversion125009nssv9954"inversion"[variant_type]
mobile element deletion14994alu deletion1730750nssv16201771"alu deletion"[variant_type]
herv deletion745nssv16193961"herv deletion"[variant_type]
line1 deletion88878nssv16200242"line1 deletion"[variant_type]
mobile element deletion2987nssv14814875"mobile element deletion"[variant_type]
sva deletion16959nssv16201401"sva deletion"[variant_type]
mobile element insertion325918alu insertion4705558nssv8635347"alu insertion"[variant_type]
herv insertion475nssv14811354"herv insertion"[variant_type]
line1 insertion672420nssv16736559"line1 insertion"[variant_type]
mobile element insertion331275nssv3394906"mobile element insertion"[variant_type]
sva insertion272909nssv16736447"sva insertion"[variant_type]
novel sequence insertion13630novel sequence insertion13683nssv3020550"novel sequence insertion"[variant_type]
sequence alteration19379sequence alteration14395nssv624286"sequence alteration"[variant_type]
short tandem repeat1328521short tandem repeat4394628nssv9999999"short tandem repeat"[variant_type]
tandem duplication19299interchromosomal translocation21essv16645629"interchromosomal translocation"[variant_type]
intrachromosomal translocation9essv16641459"intrachromosomal translocation"[variant_type]
tandem duplication28869nssv3994060"tandem duplication"[variant_type]
translocation6725interchromosomal translocation4605nssv4025986"interchromosomal translocation"[variant_type]
intrachromosomal translocation2158nssv4025988"intrachromosomal translocation"[variant_type]
Total624318036346723

nstd1

Study Page: nstd1 (Tuzun et al. 2005).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation102deletion102nssv96"nstd1"[study] AND "deletion"[variant_type]
insertion139insertion139nssv99"nstd1"[study] AND "insertion"[variant_type]
inversion56inversion56nssv98"nstd1"[study] AND "inversion"[variant_type]
Total297297

nstd2

Study Page: nstd2 (Kidd et al. 2008).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation2777deletion3992nssv9995"nstd2"[study] AND "deletion"[variant_type]
insertion4407insertion5812nssv9999"nstd2"[study] AND "insertion"[variant_type]
inversion274inversion1146nssv9954"nstd2"[study] AND "inversion"[variant_type]
Total745810950

nstd4

Study Page: nstd4 (Perry et al. 2008).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation2949copy number gain9147nssv29278"nstd4"[study] AND "copy number gain"[variant_type]
copy number loss8670nssv29270"nstd4"[study] AND "copy number loss"[variant_type]
Total294917817

nstd6

Study Page: nstd6 (Mills et al. 2006).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation216212deletion216212nssv99999"nstd6"[study] AND "deletion"[variant_type]
insertion199222insertion199222nssv99998"nstd6"[study] AND "insertion"[variant_type]
Total415434415434

nstd8

Study Page: nstd8 (Perry et al. 2008).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation791copy number gain2597nssv454630"nstd8"[study] AND "copy number gain"[variant_type]
copy number loss1904nssv454593"nstd8"[study] AND "copy number loss"[variant_type]
Total7914501

nstd11

Study Page: nstd11 (Walter et al. 2009).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation181copy number gain90nssv459496"nstd11"[study] AND "copy number gain"[variant_type]
copy number loss113nssv459497"nstd11"[study] AND "copy number loss"[variant_type]
copy-neutral loss of heterozygosity8nssv459409"nstd11"[study] AND "copy-neutral loss of heterozygosity"[variant_type]
Total181211

nstd12

Study Page: nstd12 (Marshall et al. 2008).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex substitution2complex substitution2nssv563391"nstd12"[study] AND "complex substitution"[variant_type]
copy number variation2288copy number gain1958nssv566031"nstd12"[study] AND "copy number gain"[variant_type]
copy number loss1436nssv566018"nstd12"[study] AND "copy number loss"[variant_type]
Total22903396

nstd14

Study Page: nstd14 (Cooper et al. 2008).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation368copy number gain110nssv463344"nstd14"[study] AND "copy number gain"[variant_type]
copy number loss258nssv463413"nstd14"[study] AND "copy number loss"[variant_type]
Total368368

nstd16

Study Page: nstd16 (Korbel et al. 2007).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation847deletion847nssv466804"nstd16"[study] AND "deletion"[variant_type]
insertion321insertion321nssv466803"nstd16"[study] AND "insertion"[variant_type]
inversion122inversion122nssv466750"nstd16"[study] AND "inversion"[variant_type]
Total12901290

nstd17

Study Page: nstd17 (Conrad et al. 2005).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation935copy number loss935nssv467739"nstd17"[study] AND "copy number loss"[variant_type]
Total935935

nstd20

Study Page: nstd20 (McCarroll et al. 2006).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation539copy number loss3905nssv471644"nstd20"[study] AND "copy number loss"[variant_type]
Total5393905

nstd21

Study Page: nstd21 (Shaikh et al. 2009).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation13566copy number gain8544nssv706124"nstd21"[study] AND "copy number gain"[variant_type]
copy number loss45918nssv706123"nstd21"[study] AND "copy number loss"[variant_type]
Total1356654462

nstd22

Study Page: nstd22 (McCarroll et al. 2008).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1319copy number gain7581nssv1660645"nstd22"[study] AND "copy number gain"[variant_type]
copy number loss36473nssv1660665"nstd22"[study] AND "copy number loss"[variant_type]
Total131944054

nstd23

Study Page: nstd23 (Young et al. 2008).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex substitution1deletion25nssv1671983"nstd23"[study] AND "deletion"[variant_type]
copy number variation9deletion104nssv1672034"nstd23"[study] AND "deletion"[variant_type]
duplication28nssv1672060"nstd23"[study] AND "duplication"[variant_type]
Total10157

nstd27

Study Page: nstd27 (Itsara et al. 2009).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation13843copy number gain3880nssv645974"nstd27"[study] AND "copy number gain"[variant_type]
copy number loss9963nssv645994"nstd27"[study] AND "copy number loss"[variant_type]
Total1384313843

nstd28

Study Page: nstd28 (Zhang et al. 2009).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation6copy number loss6nssv544363"nstd28"[study] AND "copy number loss"[variant_type]
Total66

nstd29

Study Page: nstd29 (Locke et al. 2006).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation388copy number gain2802nssv1676713"nstd29"[study] AND "copy number gain"[variant_type]
copy number loss1854nssv1676716"nstd29"[study] AND "copy number loss"[variant_type]
Total3884656

nstd30

Study Page: nstd30 (Jakobsson et al. 2008).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1428copy number gain1119nssv547796"nstd30"[study] AND "copy number gain"[variant_type]
copy number loss2317nssv547799"nstd30"[study] AND "copy number loss"[variant_type]
Total14283436

nstd31

Study Page: nstd31 (Alkan et al. 2009).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation226copy number gain565nssv548406"nstd31"[study] AND "copy number gain"[variant_type]
copy number loss42nssv548366"nstd31"[study] AND "copy number loss"[variant_type]
Total226607

nstd32

Study Page: nstd32 (Sharp et al. 2005).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation119copy number gain889nssv650996"nstd32"[study] AND "copy number gain"[variant_type]
copy number loss1489nssv650995"nstd32"[study] AND "copy number loss"[variant_type]
Total1192378

nstd33

Study Page: nstd33 (Sharp et al. 2007).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation4copy number loss4nssv551233"nstd33"[study] AND "copy number loss"[variant_type]
Total44

nstd34

Study Page: nstd34 (Hinds et al. 2005).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation100copy number loss100nssv646094"nstd34"[study] AND "copy number loss"[variant_type]
Total100100

nstd35

Study Page: nstd35 (Kidd et al. 2010).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex substitution31complex substitution31nssv3020474"nstd35"[study] AND "complex substitution"[variant_type]
novel sequence insertion9794novel sequence insertion9794nssv3020550"nstd35"[study] AND "novel sequence insertion"[variant_type]
Total98259825

nstd36

Study Page: nstd36 (Mitsui et al. 2010).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation395deletion352nssv650315"nstd36"[study] AND "deletion"[variant_type]
duplication45nssv650309"nstd36"[study] AND "duplication"[variant_type]
Total395397

nstd37

Study Page: nstd37 (Miller et al. 2010).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation20391copy number gain18395nssv707613"nstd37"[study] AND "copy number gain"[variant_type]
copy number loss14983nssv707614"nstd37"[study] AND "copy number loss"[variant_type]
Total2039133378

nstd39

Study Page: nstd39 (Schuster et al. 2010).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation187copy number gain172nssv558583"nstd39"[study] AND "copy number gain"[variant_type]
copy number loss15nssv558577"nstd39"[study] AND "copy number loss"[variant_type]
Total187187

nstd40

Study Page: nstd40 (Sharp et al. 2006).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation592copy number gain3167nssv3021974"nstd40"[study] AND "copy number gain"[variant_type]
copy number loss1737nssv3021975"nstd40"[study] AND "copy number loss"[variant_type]
sequence alteration97sequence alteration151nssv3010725"nstd40"[study] AND "sequence alteration"[variant_type]
Total6895055

nstd41

Study Page: nstd41 (Iafrate et al. 2004).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation255copy number gain290nssv2996563"nstd41"[study] AND "copy number gain"[variant_type]
copy number loss393nssv2996562"nstd41"[study] AND "copy number loss"[variant_type]
Total255683

nstd42

Study Page: nstd42 (Sharp et al. 2008).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1copy number loss11nssv566908"nstd42"[study] AND "copy number loss"[variant_type]
Total111

nstd43

Study Page: nstd43 (Kim et al. 2009).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1286copy number gain612nssv1419879"nstd43"[study] AND "copy number gain"[variant_type]
copy number loss689nssv1419878"nstd43"[study] AND "copy number loss"[variant_type]
insertion32insertion32nssv1418919"nstd43"[study] AND "insertion"[variant_type]
Total13181333

nstd45

Study Page: nstd45 (Riggs et al. 2011).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation364copy number gain39nssv4004222"nstd45"[study] AND "copy number gain"[variant_type]
copy number loss358nssv8635345"nstd45"[study] AND "copy number loss"[variant_type]
Total364397

nstd46

Study Page: nstd46 (Campbell et al. 2011).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1183copy number gain121034nssv2995875"nstd46"[study] AND "copy number gain"[variant_type]
copy number loss106346nssv2995785"nstd46"[study] AND "copy number loss"[variant_type]
Total1183227380

nstd47

Study Page: nstd47 (Kidd et al. 2010).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1058copy number gain427nssv586548"nstd47"[study] AND "copy number gain"[variant_type]
copy number loss631nssv586538"nstd47"[study] AND "copy number loss"[variant_type]
inversion109inversion109nssv585599"nstd47"[study] AND "inversion"[variant_type]
Total11671167

nstd49

Study Page: nstd49 (Teague et al. 2010).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex substitution239complex substitution336nssv624375"nstd49"[study] AND "complex substitution"[variant_type]
inversion8nssv624360"nstd49"[study] AND "inversion"[variant_type]
copy number variation878deletion1208nssv622822"nstd49"[study] AND "deletion"[variant_type]
insertion1089insertion1761nssv623878"nstd49"[study] AND "insertion"[variant_type]
inversion17inversion29nssv624363"nstd49"[study] AND "inversion"[variant_type]
sequence alteration1974sequence alteration3682nssv624286"nstd49"[study] AND "sequence alteration"[variant_type]
Total41977024

nstd50

Study Page: nstd50 (Arlt et al. 2011).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1856copy number gain102nssv626698"nstd50"[study] AND "copy number gain"[variant_type]
copy number loss1754nssv626808"nstd50"[study] AND "copy number loss"[variant_type]
insertion684insertion684nssv627016"nstd50"[study] AND "insertion"[variant_type]
inversion97inversion97nssv626980"nstd50"[study] AND "inversion"[variant_type]
Total26372637

nstd51

Study Page: nstd51 (User submitted curated variants).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex substitution16complex substitution1nssv1607647"nstd51"[study] AND "complex substitution"[variant_type]
delins15nssv7487149"nstd51"[study] AND "delins"[variant_type]
copy number variation209deletion191nssv7487237"nstd51"[study] AND "deletion"[variant_type]
duplication19nssv7487236"nstd51"[study] AND "duplication"[variant_type]
insertion4insertion4nssv3761624"nstd51"[study] AND "insertion"[variant_type]
Total229230

nstd52

Study Page: nstd52 (Watkins et al. 2011).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1copy number loss1nssv628513"nstd52"[study] AND "copy number loss"[variant_type]
Total11

nstd53

Study Page: nstd53 (Tüttelmann et al. 2011).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation900copy number gain1576nssv1499049"nstd53"[study] AND "copy number gain"[variant_type]
copy number loss1701nssv1499048"nstd53"[study] AND "copy number loss"[variant_type]
Total9003277

nstd54

Study Page: nstd54 (Cooper et al. 2011).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation81345copy number gain59880nssv999467"nstd54"[study] AND "copy number gain"[variant_type]
copy number loss409029nssv999999"nstd54"[study] AND "copy number loss"[variant_type]
Total81345468909

nstd55

Study Page: nstd55 (Zhu et al. 2011).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation7deletion9nssv650721"nstd55"[study] AND "deletion"[variant_type]
Total79

nstd58

Study Page: nstd58 (Forsberg et al. 2012).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex substitution2complex substitution2nssv1415557"nstd58"[study] AND "complex substitution"[variant_type]
copy number variation5copy number gain2nssv1415559"nstd58"[study] AND "copy number gain"[variant_type]
copy number loss3nssv1415556"nstd58"[study] AND "copy number loss"[variant_type]
Total77

nstd59

Study Page: nstd59 (Lopez-Herrera et al. 2012).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1deletion1nssv1495772"nstd59"[study] AND "deletion"[variant_type]
Total11

nstd64

Study Page: nstd64 (Wang et al. 2007).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1383copy number gain927nssv1418540"nstd64"[study] AND "copy number gain"[variant_type]
copy number loss2060nssv1418546"nstd64"[study] AND "copy number loss"[variant_type]
Total13832987

nstd65

Study Page: nstd65 (Ju et al. 2010).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1299deletion1016nssv1421174"nstd65"[study] AND "deletion"[variant_type]
duplication283nssv1421178"nstd65"[study] AND "duplication"[variant_type]
Total12991299

nstd66

Study Page: nstd66 (Sebat et al. 2004).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation81copy number gain131nssv1421412"nstd66"[study] AND "copy number gain"[variant_type]
copy number loss108nssv1421417"nstd66"[study] AND "copy number loss"[variant_type]
Total81239

nstd67

Study Page: nstd67 (Park et al. 2010).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation7950copy number gain5502nssv1441512"nstd67"[study] AND "copy number gain"[variant_type]
copy number loss14597nssv1441516"nstd67"[study] AND "copy number loss"[variant_type]
Total795020099

nstd68

Study Page: nstd68 (Wong et al. 2006).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation5132copy number gain7048nssv1456207"nstd68"[study] AND "copy number gain"[variant_type]
copy number loss7661nssv1456225"nstd68"[study] AND "copy number loss"[variant_type]
Total513214709

nstd71

Study Page: nstd71 (Xu et al. 2011).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation45084copy number gain32555nssv1601261"nstd71"[study] AND "copy number gain"[variant_type]
copy number loss69657nssv1601257"nstd71"[study] AND "copy number loss"[variant_type]
Total45084102212

nstd72

Study Page: nstd72 (Morak et al. 2012).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation5deletion5nssv2995880"nstd72"[study] AND "deletion"[variant_type]
Total55

nstd73

Study Page: nstd73 (Dogan et al. 2014).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation8965deletion7302nssv3005672"nstd73"[study] AND "deletion"[variant_type]
duplication1663nssv3003153"nstd73"[study] AND "duplication"[variant_type]
insertion144insertion144nssv3005544"nstd73"[study] AND "insertion"[variant_type]
Total91099109

nstd75

Study Page: nstd75 (Wapner et al. 2012).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation927copy number gain1676nssv1607642"nstd75"[study] AND "copy number gain"[variant_type]
copy number loss743nssv1607643"nstd75"[study] AND "copy number loss"[variant_type]
Total9272419

nstd76

Study Page: nstd76 (Watson et al. 2013).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex substitution2complex substitution2nssv1607658"nstd76"[study] AND "complex substitution"[variant_type]
copy number variation2deletion2nssv1607660"nstd76"[study] AND "deletion"[variant_type]
insertion4insertion6nssv1607661"nstd76"[study] AND "insertion"[variant_type]
tandem duplication1tandem duplication2nssv1607655"nstd76"[study] AND "tandem duplication"[variant_type]
Total912

nstd77

Study Page: nstd77 (Polley et al. 2016).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation2copy number variation10684nssv7487009"nstd77"[study] AND "copy number variation"[variant_type]
Total210684

nstd78

Study Page: nstd78 (Schrider et al. 2013).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation17deletion17nssv1607678"nstd78"[study] AND "deletion"[variant_type]
insertion21insertion21nssv1607699"nstd78"[study] AND "insertion"[variant_type]
Total3838

nstd79

Study Page: nstd79 (Dittwald et al. 2013).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation64deletion1103nssv1612826"nstd79"[study] AND "deletion"[variant_type]
duplication1110nssv1612824"nstd79"[study] AND "duplication"[variant_type]
Total642213

nstd80

Study Page: nstd80 (Boone et al. 2013).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1512deletion3785nssv1616611"nstd80"[study] AND "deletion"[variant_type]
Total15123785

nstd81

Study Page: nstd81 (Low et al. 2016).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1copy number gain2nssv1660667"nstd81"[study] AND "copy number gain"[variant_type]
Total12

nstd82

Study Page: nstd82 (Sudmant et al. 2013).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation28214deletion322967nssv3442520"nstd82"[study] AND "deletion"[variant_type]
duplication1006362nssv2766832"nstd82"[study] AND "duplication"[variant_type]
Total282141329329

nstd83

Study Page: nstd83 (Morak et al. 2013).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation15deletion15nssv3020585"nstd83"[study] AND "deletion"[variant_type]
translocation10interchromosomal translocation20nssv3020570"nstd83"[study] AND "interchromosomal translocation"[variant_type]
Total2535

nstd84

Study Page: nstd84 (de Ligt et al. 2013).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation10376copy number gain5299nssv1671721"nstd84"[study] AND "copy number gain"[variant_type]
copy number loss5765nssv1671731"nstd84"[study] AND "copy number loss"[variant_type]
Total1037611064

nstd85

Study Page: nstd85 (Vulto-van Silfhout et al. 2013).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1416copy number gain838nssv2768491"nstd85"[study] AND "copy number gain"[variant_type]
copy number loss825nssv2768495"nstd85"[study] AND "copy number loss"[variant_type]
Total14161663

nstd86

Study Page: nstd86 (Poultney et al. 2013).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1030deletion418nssv3021969"nstd86"[study] AND "deletion"[variant_type]
duplication966nssv3021971"nstd86"[study] AND "duplication"[variant_type]
Total10301386

nstd89

Study Page: nstd89 (de Boer et al. 2014).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
mobile element insertion1mobile element insertion1nssv3217055"nstd89"[study] AND "mobile element insertion"[variant_type]
Total11

nstd90

Study Page: nstd90 (dbSNP curated variants).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation954deletion954nssv14043468"nstd90"[study] AND "deletion"[variant_type]
delins252delins252nssv14043461"nstd90"[study] AND "delins"[variant_type]
insertion3506insertion3509nssv14043466"nstd90"[study] AND "insertion"[variant_type]
mobile element insertion2mobile element insertion3nssv14041281"nstd90"[study] AND "mobile element insertion"[variant_type]
novel sequence insertion1novel sequence insertion4nssv14043253"nstd90"[study] AND "novel sequence insertion"[variant_type]
Total47154722

nstd91

Study Page: nstd91 (Sallustio et al. 2014).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation148copy number gain43nssv3217194"nstd91"[study] AND "copy number gain"[variant_type]
copy number loss105nssv3217203"nstd91"[study] AND "copy number loss"[variant_type]
Total148148

nstd92

Study Page: nstd92 (Forsberg et al. 2014).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex substitution19complex substitution19nssv3217438"nstd92"[study] AND "complex substitution"[variant_type]
copy number variation226copy number gain17nssv3217446"nstd92"[study] AND "copy number gain"[variant_type]
copy number loss209nssv3217448"nstd92"[study] AND "copy number loss"[variant_type]
Total245245

nstd93

Study Page: nstd93 (Lindstrand et al. 2014).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1copy number loss1nssv3397476"nstd93"[study] AND "copy number loss"[variant_type]
Total11

nstd94

Study Page: nstd94 (Helman et al. 2014).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
mobile element insertion8568mobile element insertion177458nssv3394906"nstd94"[study] AND "mobile element insertion"[variant_type]
Total8568177458

nstd97

Study Page: nstd97 (Lou et al. 2014).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation2558deletion15926nssv4023098"nstd97"[study] AND "deletion"[variant_type]
duplication2949nssv4023095"nstd97"[study] AND "duplication"[variant_type]
Total255818875

nstd98

Study Page: nstd98 (Campbell et al. 2014).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation16deletion15nssv3761539"nstd98"[study] AND "deletion"[variant_type]
duplication3nssv3761533"nstd98"[study] AND "duplication"[variant_type]
Total1618

nstd99

Study Page: nstd99 (Thareja et al. 2015).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation9319deletion7622nssv3773075"nstd99"[study] AND "deletion"[variant_type]
duplication1697nssv3773076"nstd99"[study] AND "duplication"[variant_type]
insertion585insertion585nssv3773059"nstd99"[study] AND "insertion"[variant_type]
inversion135inversion135nssv3773039"nstd99"[study] AND "inversion"[variant_type]
translocation1077interchromosomal translocation602nssv3773078"nstd99"[study] AND "interchromosomal translocation"[variant_type]
intrachromosomal translocation475nssv3773077"nstd99"[study] AND "intrachromosomal translocation"[variant_type]
Total1111611116

nstd100

Study Page: nstd100 (Coe et al. 2014).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation70319copy number gain146233nssv3761521"nstd100"[study] AND "copy number gain"[variant_type]
copy number loss172542nssv3761519"nstd100"[study] AND "copy number loss"[variant_type]
Total70319318775

nstd101

Study Page: nstd101 (Kaminsky et al. 2011).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation3105copy number gain1806nssv581518"nstd101"[study] AND "copy number gain"[variant_type]
copy number loss2027nssv580688"nstd101"[study] AND "copy number loss"[variant_type]
Total31053833

nstd102

Study Page: nstd102 (Clinical Structural Variants).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex substitution54complex substitution54nssv16297162"nstd102"[study] AND "complex substitution"[variant_type]
copy number variation64720copy number gain27973nssv8640035"nstd102"[study] AND "copy number gain"[variant_type]
copy number loss28559nssv8640025"nstd102"[study] AND "copy number loss"[variant_type]
deletion7456nssv8640034"nstd102"[study] AND "deletion"[variant_type]
duplication3154nssv8640032"nstd102"[study] AND "duplication"[variant_type]
delins209delins220nssv8639995"nstd102"[study] AND "delins"[variant_type]
insertion139insertion154nssv16596312"nstd102"[study] AND "insertion"[variant_type]
inversion18inversion18nssv8639464"nstd102"[study] AND "inversion"[variant_type]
tandem duplication1tandem duplication1nssv15776766"nstd102"[study] AND "tandem duplication"[variant_type]
Total6514167589

nstd103

Study Page: nstd103 (LSDB submitted variants).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation112deletion111nssv7487139"nstd103"[study] AND "deletion"[variant_type]
duplication1nssv7487021"nstd103"[study] AND "duplication"[variant_type]
delins18delins18nssv7487137"nstd103"[study] AND "delins"[variant_type]
Total130130

nstd104

Study Page: nstd104 (Dumanski et al. 2014).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1copy number loss328nssv3761961"nstd104"[study] AND "copy number loss"[variant_type]
Total1328

nstd105

Study Page: nstd105 (Onozawa et al. 2015).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
insertion171insertion171nssv4004212"nstd105"[study] AND "insertion"[variant_type]
Total171171

nstd106

Study Page: nstd106 (Alsmadi et al. 2014).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation31223deletion30823nssv3995601"nstd106"[study] AND "deletion"[variant_type]
duplication4237nssv3993245"nstd106"[study] AND "duplication"[variant_type]
insertion1044insertion1044nssv3993357"nstd106"[study] AND "insertion"[variant_type]
inversion1137inversion1218nssv3993558"nstd106"[study] AND "inversion"[variant_type]
tandem duplication3412tandem duplication3976nssv3994060"nstd106"[study] AND "tandem duplication"[variant_type]
translocation2862interchromosomal translocation1679nssv4025986"nstd106"[study] AND "interchromosomal translocation"[variant_type]
intrachromosomal translocation1211nssv4025988"nstd106"[study] AND "intrachromosomal translocation"[variant_type]
Total3967844188

nstd107

Study Page: nstd107 (John et al. 2014).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation5363deletion2891nssv4004040"nstd107"[study] AND "deletion"[variant_type]
duplication2472nssv4004035"nstd107"[study] AND "duplication"[variant_type]
insertion1580insertion1580nssv4004041"nstd107"[study] AND "insertion"[variant_type]
inversion114inversion114nssv4003903"nstd107"[study] AND "inversion"[variant_type]
translocation1383interchromosomal translocation922nssv4004024"nstd107"[study] AND "interchromosomal translocation"[variant_type]
intrachromosomal translocation461nssv4004025"nstd107"[study] AND "intrachromosomal translocation"[variant_type]
Total84408440

nstd109

Study Page: nstd109 (Wildschutte et al. 2015).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
mobile element insertion1614alu insertion1614nssv4042683"nstd109"[study] AND "alu insertion"[variant_type]
Total16141614

nstd111

Study Page: nstd111 (Lou et al. 2015).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation2233deletion12685nssv4041069"nstd111"[study] AND "deletion"[variant_type]
duplication2396nssv4040908"nstd111"[study] AND "duplication"[variant_type]
Total223315081

nstd112

Study Page: nstd112 (Sudmant et al. 2015).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation15012copy number variation945877nssv7457585"nstd112"[study] AND "copy number variation"[variant_type]
deletion1690063nssv7458941"nstd112"[study] AND "deletion"[variant_type]
duplication667357nssv7457811"nstd112"[study] AND "duplication"[variant_type]
Total150123303297

nstd113

Study Page: nstd113 (Polyak et al. 2015).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation9010copy number gain8901nssv7475768"nstd113"[study] AND "copy number gain"[variant_type]
copy number loss7927nssv7475769"nstd113"[study] AND "copy number loss"[variant_type]
Total901016828

nstd116

Study Page: nstd116 (Forni et al. 2015).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1copy number variation1285nssv8641364"nstd116"[study] AND "copy number variation"[variant_type]
Total11285

nstd118

Study Page: nstd118 (Polley et al. 2015).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation2copy number variation3917nssv8639264"nstd118"[study] AND "copy number variation"[variant_type]
Total23917

nstd122

Study Page: nstd122 (Duyzend et al. 2015).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation94923copy number gain125173nssv8635319"nstd122"[study] AND "copy number gain"[variant_type]
copy number loss911922nssv8635318"nstd122"[study] AND "copy number loss"[variant_type]
Total949231037095

nstd124

Study Page: nstd124 (Binder et al. 2016).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
insertion1insertion1nssv8635346"nstd124"[study] AND "insertion"[variant_type]
mobile element insertion1alu insertion1nssv8635347"nstd124"[study] AND "alu insertion"[variant_type]
Total22

nstd125

Study Page: nstd125 (Wills et al. 2016).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex substitution2complex substitution3nssv13638307"nstd125"[study] AND "complex substitution"[variant_type]
copy number variation6copy number gain3nssv13638284"nstd125"[study] AND "copy number gain"[variant_type]
copy number loss7nssv13638299"nstd125"[study] AND "copy number loss"[variant_type]
copy-neutral loss of heterozygosity26copy-neutral loss of heterozygosity26nssv13638310"nstd125"[study] AND "copy-neutral loss of heterozygosity"[variant_type]
Total3439

nstd127

Study Page: nstd127 (Dumanski et al. 2016).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1copy number loss248nssv8641612"nstd127"[study] AND "copy number loss"[variant_type]
Total1248

nstd128

Study Page: nstd128 (Mallick et al. 2016).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
short tandem repeat1328521short tandem repeat4394628nssv9999999"nstd128"[study] AND "short tandem repeat"[variant_type]
Total13285214394628

nstd129

Study Page: nstd129 (Guo et al. 2016).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1copy number loss1nssv8641613"nstd129"[study] AND "copy number loss"[variant_type]
Total11

nstd130

Study Page: nstd130 (Leppa et al. 2016).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation39657deletion52346nssv13638270"nstd130"[study] AND "deletion"[variant_type]
duplication58118nssv13638271"nstd130"[study] AND "duplication"[variant_type]
Total39657110464

nstd132

Study Page: nstd132 (Walker et al. 2017).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation6173copy number loss15888nssv13676513"nstd132"[study] AND "copy number loss"[variant_type]
Total617315888

nstd133

Study Page: nstd133 (Redin et al. 2016).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex chromosomal rearrangement245copy number gain16nssv13660481"nstd133"[study] AND "copy number gain"[variant_type]
copy number loss37nssv13660625"nstd133"[study] AND "copy number loss"[variant_type]
interchromosomal translocation495nssv13660621"nstd133"[study] AND "interchromosomal translocation"[variant_type]
intrachromosomal translocation285nssv13660624"nstd133"[study] AND "intrachromosomal translocation"[variant_type]
inversion87nssv13660509"nstd133"[study] AND "inversion"[variant_type]
translocation1interchromosomal translocation1nssv13660168"nstd133"[study] AND "interchromosomal translocation"[variant_type]
Total246921

nstd136

Study Page: nstd136 (SKY-CGH).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
Total00

nstd137

Study Page: nstd137 (Huddleston et al. 2016).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation12109deletion12109nssv13711663"nstd137"[study] AND "deletion"[variant_type]
insertion20773insertion22952nssv13711667"nstd137"[study] AND "insertion"[variant_type]
inversion72inversion93nssv13711296"nstd137"[study] AND "inversion"[variant_type]
Total3295435154

nstd139

Study Page: nstd139 (Luo et al. 2019).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1copy number loss1nssv14038721"nstd139"[study] AND "copy number loss"[variant_type]
Total11

nstd140

Study Page: nstd140 (Fan et al. 2017).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation8787deletion8787nssv14038446"nstd140"[study] AND "deletion"[variant_type]
insertion13857insertion13857nssv14038445"nstd140"[study] AND "insertion"[variant_type]
Total2264422644

nstd141

Study Page: nstd141 (Rambo-Martin et al. 2018).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation123copy number gain59nssv14038720"nstd141"[study] AND "copy number gain"[variant_type]
copy number loss215nssv14038662"nstd141"[study] AND "copy number loss"[variant_type]
Total123274

nstd142

Study Page: nstd142 (Rahbari et al. 2017).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
sequence alteration3sequence alteration7nssv14038728"nstd142"[study] AND "sequence alteration"[variant_type]
Total37

nstd143

Study Page: nstd143 (Shang et al. 2017).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex substitution1complex substitution1nssv14038740"nstd143"[study] AND "complex substitution"[variant_type]
copy number variation17deletion8nssv14038746"nstd143"[study] AND "deletion"[variant_type]
duplication9nssv14038745"nstd143"[study] AND "duplication"[variant_type]
Total1818

nstd144

Study Page: nstd144 (Gardner et al. 2017).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation3142alu deletion2937nssv14063478"nstd144"[study] AND "alu deletion"[variant_type]
line1 deletion205nssv14063405"nstd144"[study] AND "line1 deletion"[variant_type]
mobile element insertion34656alu insertion25573nssv14081900"nstd144"[study] AND "alu insertion"[variant_type]
line1 insertion8610nssv14081904"nstd144"[study] AND "line1 insertion"[variant_type]
sva insertion1097nssv14081779"nstd144"[study] AND "sva insertion"[variant_type]
Total3779838422

nstd145

Study Page: nstd145 (Lu et al. 2017).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation8237deletion25186nssv14109454"nstd145"[study] AND "deletion"[variant_type]
duplication1731nssv14109440"nstd145"[study] AND "duplication"[variant_type]
Total823726917

nstd149

Study Page: nstd149 (Gambin et al. 2017).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation36copy number loss41nssv14109495"nstd149"[study] AND "copy number loss"[variant_type]
Total3641

nstd151

Study Page: nstd151 (Exome Aggregation Consortium CNVs).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation49339copy number gain77362nssv14236267"nstd151"[study] AND "copy number gain"[variant_type]
copy number loss49409nssv14236268"nstd151"[study] AND "copy number loss"[variant_type]
Total49339126771

nstd152

Study Page: nstd152 (Chaisson et al. 2019).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex substitution15021complex substitution19549nssv14467591"nstd152"[study] AND "complex substitution"[variant_type]
copy number variation37103copy number variation675nssv14392553"nstd152"[study] AND "copy number variation"[variant_type]
deletion80281nssv14467590"nstd152"[study] AND "deletion"[variant_type]
duplication9243nssv14392572"nstd152"[study] AND "duplication"[variant_type]
insertion34439insertion62457nssv14467585"nstd152"[study] AND "insertion"[variant_type]
inversion475inversion1968nssv14467594"nstd152"[study] AND "inversion"[variant_type]
mobile element deletion6369alu deletion14733nssv14467593"nstd152"[study] AND "alu deletion"[variant_type]
herv deletion110nssv14466872"nstd152"[study] AND "herv deletion"[variant_type]
line1 deletion1896nssv14467533"nstd152"[study] AND "line1 deletion"[variant_type]
mobile element deletion584nssv14467576"nstd152"[study] AND "mobile element deletion"[variant_type]
sva deletion420nssv14467534"nstd152"[study] AND "sva deletion"[variant_type]
mobile element insertion9318alu insertion15763nssv14467531"nstd152"[study] AND "alu insertion"[variant_type]
herv insertion99nssv14467392"nstd152"[study] AND "herv insertion"[variant_type]
line1 insertion2184nssv14467515"nstd152"[study] AND "line1 insertion"[variant_type]
mobile element insertion472nssv14467311"nstd152"[study] AND "mobile element insertion"[variant_type]
sva insertion1467nssv14467055"nstd152"[study] AND "sva insertion"[variant_type]
sequence alteration1260sequence alteration3016nssv14467570"nstd152"[study] AND "sequence alteration"[variant_type]
Total103985214917

nstd153

Study Page: nstd153 (Szafranski et al. 2018).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation8copy number loss8nssv14252587"nstd153"[study] AND "copy number loss"[variant_type]
Total88

nstd154

Study Page: nstd154 (Möller et al. 2017).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1deletion7nssv14236275"nstd154"[study] AND "deletion"[variant_type]
Total17

nstd155

Study Page: nstd155 (Adewoye et al. 2018).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex substitution1complex substitution2502nssv14238777"nstd155"[study] AND "complex substitution"[variant_type]
Total12502

nstd156

Study Page: nstd156 (Fu et al. 2018).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation963deletion9301nssv14252544"nstd156"[study] AND "deletion"[variant_type]
duplication2500nssv14252541"nstd156"[study] AND "duplication"[variant_type]
Total96311796

nstd157

Study Page: nstd157 (Frenkel et al. 2019).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1907copy number gain1530nssv14471996"nstd157"[study] AND "copy number gain"[variant_type]
copy number loss2872nssv14471995"nstd157"[study] AND "copy number loss"[variant_type]
Total19074402

nstd158

Study Page: nstd158 (Cleal et al. 2019).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1013deletion684nssv14240391"nstd158"[study] AND "deletion"[variant_type]
duplication329nssv14240398"nstd158"[study] AND "duplication"[variant_type]
inversion353inversion353nssv14240127"nstd158"[study] AND "inversion"[variant_type]
translocation255interchromosomal translocation255nssv14240382"nstd158"[study] AND "interchromosomal translocation"[variant_type]
Total16211621

nstd159

Study Page: nstd159 (Kucukkilic et al. 2018).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation2copy number variation350nssv14240748"nstd159"[study] AND "copy number variation"[variant_type]
Total2350

nstd161

Study Page: nstd161 (Nazaryan-Petersen et al. 2019).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex chromosomal rearrangement4interchromosomal translocation14nssv15745562"nstd161"[study] AND "interchromosomal translocation"[variant_type]
intrachromosomal translocation27nssv15745559"nstd161"[study] AND "intrachromosomal translocation"[variant_type]
Total441

nstd162

Study Page: nstd162 (Audano et al. 2019).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation36543deletion103786nssv14812032"nstd162"[study] AND "deletion"[variant_type]
duplication9295nssv14812023"nstd162"[study] AND "duplication"[variant_type]
insertion50249insertion178082nssv14812031"nstd162"[study] AND "insertion"[variant_type]
inversion217inversion900nssv14811392"nstd162"[study] AND "inversion"[variant_type]
mobile element deletion6165alu deletion17743nssv14732031"nstd162"[study] AND "alu deletion"[variant_type]
herv deletion437nssv14752027"nstd162"[study] AND "herv deletion"[variant_type]
line1 deletion5031nssv14811987"nstd162"[study] AND "line1 deletion"[variant_type]
mobile element deletion2403nssv14814875"nstd162"[study] AND "mobile element deletion"[variant_type]
sva deletion2277nssv14814870"nstd162"[study] AND "sva deletion"[variant_type]
mobile element insertion6636alu insertion17333nssv14812018"nstd162"[study] AND "alu insertion"[variant_type]
herv insertion376nssv14811354"nstd162"[study] AND "herv insertion"[variant_type]
mobile element insertion2121nssv14811777"nstd162"[study] AND "mobile element insertion"[variant_type]
sva insertion3058nssv14811843"nstd162"[study] AND "sva insertion"[variant_type]
Total99810342842

nstd163

Study Page: nstd163 (Gupta et al. 2019).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation3deletion8nssv14472004"nstd163"[study] AND "deletion"[variant_type]
Total38

nstd164

Study Page: nstd164 (Karolak et al. 2019).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation10copy number loss13nssv14814888"nstd164"[study] AND "copy number loss"[variant_type]
Total1013

nstd165

Study Page: nstd165 (Bhaskaran et al. 2019).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation7deletion7nssv15605715"nstd165"[study] AND "deletion"[variant_type]
Total77

nstd166

Study Page: nstd166 (gnomAD_Structural_Variants).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation198128copy number variation9710nssv15794654"nstd166"[study] AND "copy number variation"[variant_type]
deletion155003nssv15957826"nstd166"[study] AND "deletion"[variant_type]
duplication42047nssv15991013"nstd166"[study] AND "duplication"[variant_type]
insertion24970insertion25140nssv16091015"nstd166"[study] AND "insertion"[variant_type]
inversion700inversion700nssv16091436"nstd166"[study] AND "inversion"[variant_type]
mobile element insertion76363alu insertion59657nssv16091019"nstd166"[study] AND "alu insertion"[variant_type]
line1 insertion9808nssv16091021"nstd166"[study] AND "line1 insertion"[variant_type]
mobile element insertion638nssv16091016"nstd166"[study] AND "mobile element insertion"[variant_type]
sva insertion6306nssv16090997"nstd166"[study] AND "sva insertion"[variant_type]
sequence alteration4572sequence alteration4572nssv15791835"nstd166"[study] AND "sequence alteration"[variant_type]
Total304733313581

nstd167

Study Page: nstd167 (Wenger et al. 2019).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation13434deletion13436nssv15200705"nstd167"[study] AND "deletion"[variant_type]
insertion16784insertion17198nssv15206220"nstd167"[study] AND "insertion"[variant_type]
Total3021830634

nstd168

Study Page: nstd168 (Levy-Sakin et al. 2019).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex substitution464complex substitution471nssv15222631"nstd168"[study] AND "complex substitution"[variant_type]
copy number variation9153deletion9106nssv15222648"nstd168"[study] AND "deletion"[variant_type]
duplication47nssv15222517"nstd168"[study] AND "duplication"[variant_type]
insertion6495insertion6495nssv15222651"nstd168"[study] AND "insertion"[variant_type]
inversion276inversion276nssv15222542"nstd168"[study] AND "inversion"[variant_type]
translocation36interchromosomal translocation25nssv15220351"nstd168"[study] AND "interchromosomal translocation"[variant_type]
intrachromosomal translocation11nssv15222038"nstd168"[study] AND "intrachromosomal translocation"[variant_type]
Total1642416431

nstd169

Study Page: nstd169 (Giner-Delgado et al. 2019).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
inversion45inversion45nssv15607186"nstd169"[study] AND "inversion"[variant_type]
Total4545

nstd171

Study Page: nstd171 (Wong et al. 2019).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation4378deletion4378nssv15707336"nstd171"[study] AND "deletion"[variant_type]
Total43784378

nstd172

Study Page: nstd172 (Deng et al. 2019).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation4659deletion7470nssv15754714"nstd172"[study] AND "deletion"[variant_type]
duplication1682nssv15754713"nstd172"[study] AND "duplication"[variant_type]
Total46599152

nstd173

Study Page: nstd173 (Zarrei et al. 2019).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation23548copy number gain42440nssv15702958"nstd173"[study] AND "copy number gain"[variant_type]
copy number loss47976nssv15702957"nstd173"[study] AND "copy number loss"[variant_type]
copy number variation978nssv15702860"nstd173"[study] AND "copy number variation"[variant_type]
Total2354891394

nstd174

Study Page: nstd174 (DGV Gold Standard).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation38176copy number gain6209nssv15713545"nstd174"[study] AND "copy number gain"[variant_type]
copy number loss31976nssv15745521"nstd174"[study] AND "copy number loss"[variant_type]
Total3817638185

nstd175

Study Page: nstd175 (Genome in a Bottle).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation5195deletion5195nssv15768560"nstd175"[study] AND "deletion"[variant_type]
delins695delins695nssv15768473"nstd175"[study] AND "delins"[variant_type]
insertion6855insertion6855nssv15768573"nstd175"[study] AND "insertion"[variant_type]
Total1274512745

nstd177

Study Page: nstd177 (Louzada et al. 2019).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation22deletion10nssv15768589"nstd177"[study] AND "deletion"[variant_type]
duplication13nssv15768602"nstd177"[study] AND "duplication"[variant_type]
Total2223

nstd178

Study Page: nstd178 (Karolak et al. 2020).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1copy number loss1nssv15768603"nstd178"[study] AND "copy number loss"[variant_type]
Total11

nstd179

Study Page: nstd179 (Bertuzzi et al. 2020).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1deletion1nssv16091441"nstd179"[study] AND "deletion"[variant_type]
Total11

nstd180

Study Page: nstd180 (Levchenko et al. 2020).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1deletion1nssv16091660"nstd180"[study] AND "deletion"[variant_type]
Total11

nstd181

Study Page: nstd181 (Alcoverro et al. 2020).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1deletion2nssv16091768"nstd181"[study] AND "deletion"[variant_type]
Total12

nstd182

Study Page: nstd182 (Al-Mubarak et al. 2020).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation5copy number gain2nssv16091772"nstd182"[study] AND "copy number gain"[variant_type]
copy number loss3nssv16091773"nstd182"[study] AND "copy number loss"[variant_type]
Total55

nstd183

Study Page: nstd183 (DECIPHER Consensus CNVs).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation55675deletion42513nssv16154039"nstd183"[study] AND "deletion"[variant_type]
duplication19561nssv16154037"nstd183"[study] AND "duplication"[variant_type]
Total5567562074

nstd184

Study Page: nstd184 (Gomez et al. 2020).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1copy number loss1nssv16154040"nstd184"[study] AND "copy number loss"[variant_type]
Total11

nstd185

Study Page: nstd185 (Puig et al. 2020).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1deletion1nssv16181389"nstd185"[study] AND "deletion"[variant_type]
inversion18inversion18nssv16181401"nstd185"[study] AND "inversion"[variant_type]
Total1919

nstd186

Study Page: nstd186 (NCBI Curated Common Structural Variants).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation38321copy number gain430nssv16206451"nstd186"[study] AND "copy number gain"[variant_type]
copy number loss335nssv16201745"nstd186"[study] AND "copy number loss"[variant_type]
copy number variation5405nssv16206449"nstd186"[study] AND "copy number variation"[variant_type]
deletion32558nssv16205747"nstd186"[study] AND "deletion"[variant_type]
duplication4425nssv16206344"nstd186"[study] AND "duplication"[variant_type]
insertion8570insertion8725nssv16253412"nstd186"[study] AND "insertion"[variant_type]
mobile element deletion1156alu deletion1094nssv16201771"nstd186"[study] AND "alu deletion"[variant_type]
herv deletion1nssv16193961"nstd186"[study] AND "herv deletion"[variant_type]
line1 deletion53nssv16200242"nstd186"[study] AND "line1 deletion"[variant_type]
sva deletion8nssv16201401"nstd186"[study] AND "sva deletion"[variant_type]
mobile element insertion7934alu insertion6535nssv16232622"nstd186"[study] AND "alu insertion"[variant_type]
line1 insertion1001nssv16232621"nstd186"[study] AND "line1 insertion"[variant_type]
mobile element insertion38nssv16230321"nstd186"[study] AND "mobile element insertion"[variant_type]
sva insertion478nssv16232536"nstd186"[study] AND "sva insertion"[variant_type]
Total5598161086

nstd187

Study Page: nstd187 (Hughes et al. 2020).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1copy number variation142nssv16215031"nstd187"[study] AND "copy number variation"[variant_type]
Total1142

nstd189

Study Page: nstd189 (Pérez-Palma et al. 2020).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation2181deletion658nssv16211527"nstd189"[study] AND "deletion"[variant_type]
duplication1840nssv16211533"nstd189"[study] AND "duplication"[variant_type]
Total21812498

nstd190

Study Page: nstd190 (Williams et al. 2020).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation241deletion241nssv16211774"nstd190"[study] AND "deletion"[variant_type]
Total241241

nstd191

Study Page: nstd191 (Dai et al. 2020).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
inversion1inversion1nssv16214889"nstd191"[study] AND "inversion"[variant_type]
Total11

nstd192

Study Page: nstd192 (Smajlagic et al. 2020).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation35deletion25nssv16215387"nstd192"[study] AND "deletion"[variant_type]
duplication34nssv16215371"nstd192"[study] AND "duplication"[variant_type]
Total3559

nstd193

Study Page: nstd193 (Teekakirikul et al. 2020).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1deletion5nssv16215106"nstd193"[study] AND "deletion"[variant_type]
Total15

nstd194

Study Page: nstd194 (Lee et al. 2020).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
insertion1114insertion1114nssv16216501"nstd194"[study] AND "insertion"[variant_type]
Total11141114

nstd195

Study Page: nstd195 (Mwapagha et al. 2020).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation12955copy number variation5370nssv16252130"nstd195"[study] AND "copy number variation"[variant_type]
deletion12289nssv16252128"nstd195"[study] AND "deletion"[variant_type]
insertion19insertion19nssv16250380"nstd195"[study] AND "insertion"[variant_type]
inversion450inversion500nssv16252085"nstd195"[study] AND "inversion"[variant_type]
tandem duplication226tandem duplication230nssv16251834"nstd195"[study] AND "tandem duplication"[variant_type]
translocation1100interchromosomal translocation1100nssv16252120"nstd195"[study] AND "interchromosomal translocation"[variant_type]
Total1475019508

nstd197

Study Page: nstd197 (Boujemaa et al. 2021).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation280copy number gain159nssv16253895"nstd197"[study] AND "copy number gain"[variant_type]
copy number loss324nssv16253893"nstd197"[study] AND "copy number loss"[variant_type]
Total280483

nstd198

Study Page: nstd198 (Hanlon et al. 2021).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
inversion234inversion3053nssv16258891"nstd198"[study] AND "inversion"[variant_type]
Total2343053

nstd199

Study Page: nstd199 (Quan et al. 2021).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation20162deletion19441nssv16296918"nstd199"[study] AND "deletion"[variant_type]
duplication721nssv16296897"nstd199"[study] AND "duplication"[variant_type]
insertion17423insertion17424nssv16296919"nstd199"[study] AND "insertion"[variant_type]
inversion442inversion442nssv16296837"nstd199"[study] AND "inversion"[variant_type]
Total3802738028

nstd201

Study Page: nstd201 (Favilla et al. 2021).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation4copy number gain1nssv16297004"nstd201"[study] AND "copy number gain"[variant_type]
copy number loss3nssv16297007"nstd201"[study] AND "copy number loss"[variant_type]
Total44

nstd202

Study Page: nstd202 (Ghazali et al. 2021).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation2copy number gain1nssv16596260"nstd202"[study] AND "copy number gain"[variant_type]
copy number loss1nssv16596259"nstd202"[study] AND "copy number loss"[variant_type]
Total22

nstd203

Study Page: nstd203 (Borges-Monroy et al. 2021).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
mobile element insertion140215alu insertion113439nssv16736560"nstd203"[study] AND "alu insertion"[variant_type]
line1 insertion18602nssv16736559"nstd203"[study] AND "line1 insertion"[variant_type]
sva insertion8174nssv16736447"nstd203"[study] AND "sva insertion"[variant_type]
Total140215140215

nstd205

Study Page: nstd205 (Kwong et al. 2021).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation15deletion13nssv16736576"nstd205"[study] AND "deletion"[variant_type]
duplication2nssv16736566"nstd205"[study] AND "duplication"[variant_type]
delins1delins1nssv16736573"nstd205"[study] AND "delins"[variant_type]
Total1616

estd1

Study Page: estd1 (Redon et al. 2006).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation3340copy number gain13942essv9998"estd1"[study] AND "copy number gain"[variant_type]
copy number loss11518essv9999"estd1"[study] AND "copy number loss"[variant_type]
Total334025193

estd3

Study Page: estd3 (Wang et al. 2008).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation2637complex substitution191essv27860"estd3"[study] AND "complex substitution"[variant_type]
copy number loss2446essv27875"estd3"[study] AND "copy number loss"[variant_type]
inversion16inversion16essv27765"estd3"[study] AND "inversion"[variant_type]
sequence alteration29sequence alteration29essv27822"estd3"[study] AND "sequence alteration"[variant_type]
Total26822682

estd19

Study Page: estd19 (Ahn et al. 2009).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation3883copy number gain963essv32171"estd19"[study] AND "copy number gain"[variant_type]
copy number loss2920essv32173"estd19"[study] AND "copy number loss"[variant_type]
inversion415inversion415essv32166"estd19"[study] AND "inversion"[variant_type]
Total42984298

estd20

Study Page: estd20 (Conrad et al. 2009).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation11700copy number gain26124essv84153"estd20"[study] AND "copy number gain"[variant_type]
copy number loss25857essv84154"estd20"[study] AND "copy number loss"[variant_type]
Total2020651981

estd21

Study Page: estd21 (Wheeler et al. 2008).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation23copy number gain9essv84200"estd21"[study] AND "copy number gain"[variant_type]
copy number loss14essv84198"estd21"[study] AND "copy number loss"[variant_type]
Total2323

estd22

Study Page: estd22 (Levy et al. 2007).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation376653copy number gain19essv84245"estd22"[study] AND "copy number gain"[variant_type]
copy number loss26essv84244"estd22"[study] AND "copy number loss"[variant_type]
deletion376608essv4367655"estd22"[study] AND "deletion"[variant_type]
insertion403615insertion403615essv4367659"estd22"[study] AND "insertion"[variant_type]
inversion90inversion90essv4361689"estd22"[study] AND "inversion"[variant_type]
Total780358780358

estd24

Study Page: estd24 (de Smith et al. 2007).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1773copy number gain4369essv99997"estd24"[study] AND "copy number gain"[variant_type]
copy number loss4913essv99999"estd24"[study] AND "copy number loss"[variant_type]
Total17739282

estd48

Study Page: estd48 (Stefansson et al. 2005).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
inversion1inversion1essv7033422"estd48"[study] AND "inversion"[variant_type]
Total11

estd49

Study Page: estd49 (Gusev et al. 2008).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation225copy number loss225essv6990737"estd49"[study] AND "copy number loss"[variant_type]
Total225225

estd50

Study Page: estd50 (Giglio et al. 2002).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
inversion2inversion4essv7571845"estd50"[study] AND "inversion"[variant_type]
Total24

estd55

Study Page: estd55 (Pinto et al. 2007).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation6862copy number gain8003essv6990524"estd55"[study] AND "copy number gain"[variant_type]
copy number loss4580essv6990176"estd55"[study] AND "copy number loss"[variant_type]
Total686212583

estd59

Study Page: estd59 (1000 Genomes Project Consortium et al. 2010).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation206192deletion1952690essv9729888"estd59"[study] AND "deletion"[variant_type]
duplication11020essv8809655"estd59"[study] AND "duplication"[variant_type]
insertion14346insertion94504essv9682247"estd59"[study] AND "insertion"[variant_type]
inversion191inversion191essv8809650"estd59"[study] AND "inversion"[variant_type]
mobile element insertion7306mobile element insertion91852essv7843378"estd59"[study] AND "mobile element insertion"[variant_type]
novel sequence insertion173novel sequence insertion223essv7843646"estd59"[study] AND "novel sequence insertion"[variant_type]
tandem duplication663tandem duplication7531essv7739279"estd59"[study] AND "tandem duplication"[variant_type]
Total2288712158011

estd176

Study Page: estd176 (Banerjee et al. 2011).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex substitution3complex substitution4essv2585969"estd176"[study] AND "complex substitution"[variant_type]
copy number variation731copy number gain346essv2586183"estd176"[study] AND "copy number gain"[variant_type]
copy number loss731essv2586188"estd176"[study] AND "copy number loss"[variant_type]
Total7341081

estd180

Study Page: estd180 (Pang et al. 2010).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation14491copy number gain624essv3587338"estd180"[study] AND "copy number gain"[variant_type]
copy number loss714essv3587336"estd180"[study] AND "copy number loss"[variant_type]
deletion13153essv3586000"estd180"[study] AND "deletion"[variant_type]
insertion9291insertion9291essv3585997"estd180"[study] AND "insertion"[variant_type]
inversion105inversion105essv3565824"estd180"[study] AND "inversion"[variant_type]
Total2388723887

estd186

Study Page: estd186 (Thevenon et al. 2012).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation3copy number gain1essv4367669"estd186"[study] AND "copy number gain"[variant_type]
copy number loss2essv4367668"estd186"[study] AND "copy number loss"[variant_type]
Total33

estd188

Study Page: estd188 (Pinto et al. 2011).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation60247copy number gain16830essv4427906"estd188"[study] AND "copy number gain"[variant_type]
copy number loss43417essv4427916"estd188"[study] AND "copy number loss"[variant_type]
Total6024760247

estd192

Study Page: estd192 (Forbes et al. 2008).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex chromosomal rearrangement13994deletion1799essv16645733"estd192"[study] AND "deletion"[variant_type]
interchromosomal translocation11501essv16645771"estd192"[study] AND "interchromosomal translocation"[variant_type]
intrachromosomal translocation1754essv16645770"estd192"[study] AND "intrachromosomal translocation"[variant_type]
complex substitution1interchromosomal translocation2essv16639675"estd192"[study] AND "interchromosomal translocation"[variant_type]
copy number variation23279deletion26371essv16645772"estd192"[study] AND "deletion"[variant_type]
intrachromosomal translocation4essv16638008"estd192"[study] AND "intrachromosomal translocation"[variant_type]
insertion35insertion44essv16645497"estd192"[study] AND "insertion"[variant_type]
inversion8882deletion1essv16581090"estd192"[study] AND "deletion"[variant_type]
interchromosomal translocation5essv16640986"estd192"[study] AND "interchromosomal translocation"[variant_type]
intrachromosomal translocation5essv16643495"estd192"[study] AND "intrachromosomal translocation"[variant_type]
inversion9557essv16645768"estd192"[study] AND "inversion"[variant_type]
tandem duplication14996interchromosomal translocation21essv16645629"estd192"[study] AND "interchromosomal translocation"[variant_type]
intrachromosomal translocation9essv16641459"estd192"[study] AND "intrachromosomal translocation"[variant_type]
tandem duplication17129essv16645773"estd192"[study] AND "tandem duplication"[variant_type]
Total6118768202

estd193

Study Page: estd193 (Feuk et al. 2005).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
inversion3inversion3essv4491061"estd193"[study] AND "inversion"[variant_type]
Total33

estd194

Study Page: estd194 (Bentley et al. 2008).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation282411deletion282411essv5001893"estd194"[study] AND "deletion"[variant_type]
insertion222501insertion222501essv5001891"estd194"[study] AND "insertion"[variant_type]
Total504912504912

estd195

Study Page: estd195 (International HapMap 3 Consortium et al. 2010).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex substitution43deletion10104essv5161217"estd195"[study] AND "deletion"[variant_type]
duplication6054essv5161201"estd195"[study] AND "duplication"[variant_type]
copy number variation813deletion133355essv5161230"estd195"[study] AND "deletion"[variant_type]
duplication9824essv5161193"estd195"[study] AND "duplication"[variant_type]
Total856159337

estd196

Study Page: estd196 (Simon-Sanchez et al. 2006).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation335deletion125essv5161565"estd196"[study] AND "deletion"[variant_type]
duplication210essv5161561"estd196"[study] AND "duplication"[variant_type]
Total335335

estd197

Study Page: estd197 (McKernan et al. 2009).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation130732copy number gain78essv5394127"estd197"[study] AND "copy number gain"[variant_type]
copy number loss487essv5392997"estd197"[study] AND "copy number loss"[variant_type]
deletion130167essv5394337"estd197"[study] AND "deletion"[variant_type]
insertion101952insertion101952essv5394340"estd197"[study] AND "insertion"[variant_type]
inversion91inversion91essv5394106"estd197"[study] AND "inversion"[variant_type]
Total232775232775

estd198

Study Page: estd198 (Chia et al. 2013).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation381copy number gain9essv5395537"estd198"[study] AND "copy number gain"[variant_type]
copy number loss390essv5395538"estd198"[study] AND "copy number loss"[variant_type]
Total381399

estd199

Study Page: estd199 (1000 Genomes Project Consortium et al. 2012).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation22531deletion1202929essv6598470"estd199"[study] AND "deletion"[variant_type]
Total225311202929

estd201

Study Page: estd201 (Wong et al. 2013).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation36558deletion526905essv6977926"estd201"[study] AND "deletion"[variant_type]
Total36558312665

estd203

Study Page: estd203 (Vogler et al. 2010).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation4192copy number gain7984essv7033400"estd203"[study] AND "copy number gain"[variant_type]
copy number loss34685essv7033410"estd203"[study] AND "copy number loss"[variant_type]
Total419242669

estd206

Study Page: estd206 (Nagirnaja et al. 2014).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation513copy number gain289essv7099909"estd206"[study] AND "copy number gain"[variant_type]
copy number loss626essv7099915"estd206"[study] AND "copy number loss"[variant_type]
Total513915

estd208

Study Page: estd208 (Helbig et al. 2013).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation81deletion39essv7100009"estd208"[study] AND "deletion"[variant_type]
duplication49essv7100011"estd208"[study] AND "duplication"[variant_type]
Total8188

estd209

Study Page: estd209 (Pang et al. 2014).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation230969deletion230782essv7571728"estd209"[study] AND "deletion"[variant_type]
duplication187essv7568506"estd209"[study] AND "duplication"[variant_type]
insertion240848insertion240848essv7571838"estd209"[study] AND "insertion"[variant_type]
Total471817471817

estd210

Study Page: estd210 (Blake et al. 2014).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1deletion1essv26058945"estd210"[study] AND "deletion"[variant_type]
inversion2inversion2essv26058944"estd210"[study] AND "inversion"[variant_type]
translocation1interchromosomal translocation1essv26058942"estd210"[study] AND "interchromosomal translocation"[variant_type]
Total44

estd211

Study Page: estd211 (Campbell et al. 2014).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation100deletion100essv9766641"estd211"[study] AND "deletion"[variant_type]
Total100100

estd212

Study Page: estd212 (Uddin et al. 2014).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation16575copy number gain14736essv9837747"estd212"[study] AND "copy number gain"[variant_type]
copy number loss56442essv9837819"estd212"[study] AND "copy number loss"[variant_type]
Total1657571178

estd213

Study Page: estd213 (Mokhtar et al. 2014).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation497copy number gain334essv9838930"estd213"[study] AND "copy number gain"[variant_type]
copy number loss777essv9838932"estd213"[study] AND "copy number loss"[variant_type]
Total4971111

estd214

Study Page: estd214 (1000 Genomes Project Consortium et al. 2015).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation42453copy number gain386472essv9996332"estd214"[study] AND "copy number gain"[variant_type]
copy number loss196154essv9996329"estd214"[study] AND "copy number loss"[variant_type]
deletion2466670essv9999999"estd214"[study] AND "deletion"[variant_type]
duplication41171essv9993533"estd214"[study] AND "duplication"[variant_type]
delins2288delins1103443essv9983164"estd214"[study] AND "delins"[variant_type]
insertion164insertion11299essv9978294"estd214"[study] AND "insertion"[variant_type]
inversion100inversion26701essv9923998"estd214"[study] AND "inversion"[variant_type]
mobile element insertion16673alu insertion2216195essv9999374"estd214"[study] AND "alu insertion"[variant_type]
line1 insertion311031essv9996996"estd214"[study] AND "line1 insertion"[variant_type]
mobile element insertion58692essv25778189"estd214"[study] AND "mobile element insertion"[variant_type]
sva insertion125525essv9980992"estd214"[study] AND "sva insertion"[variant_type]
Total616786943353

estd215

Study Page: estd215 (Boomsma et al. 2013).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation28083deletion28083essv9766504"estd215"[study] AND "deletion"[variant_type]
Total2808328083

estd216

Study Page: estd216 (Kasak et al. 2015).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation879deletion630essv16463298"estd216"[study] AND "deletion"[variant_type]
duplication249essv16463300"estd216"[study] AND "duplication"[variant_type]
Total879879

estd217

Study Page: estd217 (Besenbacher et al. 2015).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex substitution3826complex substitution3826essv16503432"estd217"[study] AND "complex substitution"[variant_type]
copy number variation11340deletion11340essv16503442"estd217"[study] AND "deletion"[variant_type]
insertion18349insertion18349essv16489432"estd217"[study] AND "insertion"[variant_type]
inversion26inversion26essv16489461"estd217"[study] AND "inversion"[variant_type]
novel sequence insertion3662novel sequence insertion3662essv16493530"estd217"[study] AND "novel sequence insertion"[variant_type]
sequence alteration2938sequence alteration2938essv16496795"estd217"[study] AND "sequence alteration"[variant_type]
Total4014140141

estd218

Study Page: estd218 (Simpson et al. 2015).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation5513copy number gain1491essv26051856"estd218"[study] AND "copy number gain"[variant_type]
copy number loss4022essv26051858"estd218"[study] AND "copy number loss"[variant_type]
Total55135513

estd219

Study Page: estd219 (1000 Genomes Consortium Phase 3 Integrated SV).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation49936copy number gain125971essv25742895"estd219"[study] AND "copy number gain"[variant_type]
copy number loss127112essv25742894"estd219"[study] AND "copy number loss"[variant_type]
copy number variation202435essv25719439"estd219"[study] AND "copy number variation"[variant_type]
deletion3743754essv25753358"estd219"[study] AND "deletion"[variant_type]
duplication34932essv25753174"estd219"[study] AND "duplication"[variant_type]
insertion168insertion11372essv25321923"estd219"[study] AND "insertion"[variant_type]
inversion786inversion76016essv25112157"estd219"[study] AND "inversion"[variant_type]
mobile element deletion1304alu deletion1697180essv25710927"estd219"[study] AND "alu deletion"[variant_type]
herv deletion197essv19823631"estd219"[study] AND "herv deletion"[variant_type]
line1 deletion81898essv25696906"estd219"[study] AND "line1 deletion"[variant_type]
sva deletion14254essv24843323"estd219"[study] AND "sva deletion"[variant_type]
mobile element insertion16631alu insertion2249448essv25752967"estd219"[study] AND "alu insertion"[variant_type]
line1 insertion321184essv25753351"estd219"[study] AND "line1 insertion"[variant_type]
sva insertion126804essv25733601"estd219"[study] AND "sva insertion"[variant_type]
Total688258812557

estd220

Study Page: estd220 (Pettigrew et al. 2015).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation3620deletion403essv16507027"estd220"[study] AND "deletion"[variant_type]
duplication3217essv16507026"estd220"[study] AND "duplication"[variant_type]
Total36203585

estd221

Study Page: estd221 (Palta et al. 2015).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation699copy number gain393essv16509331"estd221"[study] AND "copy number gain"[variant_type]
copy number loss1920essv16509340"estd221"[study] AND "copy number loss"[variant_type]
Total6992313

estd222

Study Page: estd222 (Franke et al. 2015).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex substitution2complex substitution35508essv25893569"estd222"[study] AND "complex substitution"[variant_type]
Total235508

estd224

Study Page: estd224 (Suktitipat et al. 2014).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation3576copy number gain4879essv25793177"estd224"[study] AND "copy number gain"[variant_type]
copy number loss18579essv25801679"estd224"[study] AND "copy number loss"[variant_type]
Total357623458

estd225

Study Page: estd225 (Magnusson et al. 2016).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1249copy number gain732essv25822538"estd225"[study] AND "copy number gain"[variant_type]
copy number loss1185essv25822535"estd225"[study] AND "copy number loss"[variant_type]
Total12491917

estd226

Study Page: estd226 (Zlotina et al. 2016).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation4copy number gain1essv26046344"estd226"[study] AND "copy number gain"[variant_type]
copy number loss3essv26046345"estd226"[study] AND "copy number loss"[variant_type]
Total44

estd228

Study Page: estd228 (Ansari et al. 2016).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation12deletion12essv25893593"estd228"[study] AND "deletion"[variant_type]
Total1212

estd229

Study Page: estd229 (Fakhro et al. 2015).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation16676deletion56972essv26046330"estd229"[study] AND "deletion"[variant_type]
duplication95757essv26046320"estd229"[study] AND "duplication"[variant_type]
Total16676152729

estd231

Study Page: estd231 (Wong et al. 2016).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation6665deletion5545essv26066024"estd231"[study] AND "deletion"[variant_type]
duplication1120essv26065257"estd231"[study] AND "duplication"[variant_type]
inversion398inversion398essv26065700"estd231"[study] AND "inversion"[variant_type]
Total70637063

estd232

Study Page: estd232 (Blanco-Kelly et al. 2017).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation8copy number loss8essv26066049"estd232"[study] AND "copy number loss"[variant_type]
Total88

estd233

Study Page: estd233 (Luo et al. 2017b).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
copy number variation1026copy number gain925essv26067087"estd233"[study] AND "copy number gain"[variant_type]
copy number loss101essv26067074"estd233"[study] AND "copy number loss"[variant_type]
Total10261026

estd236

Study Page: estd236 (Kurtas et al. 2018).

Region TypeRegion countCall TypeCall countExample Variant CallQuery
complex chromosomal rearrangement6interchromosomal translocation14essv26067136"estd236"[study] AND "interchromosomal translocation"[variant_type]
intrachromosomal translocation10essv26067133"estd236"[study] AND "intrachromosomal translocation"[variant_type]
inversion1essv26067109"estd236"[study] AND "inversion"[variant_type]
copy number variation1copy number loss1essv26067121"estd236"[study] AND "copy number loss"[variant_type]
Total736

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Last updated: 2021-03-25T16:59:12Z