nstd173 (Zarrei et al. 2019)

Organism:
Human
Study Type:
Case-Control
Submitter:
Jeff MacDonald
Description:
Copy number variations (CNVs) are implicated across many neurodevelopmental disorders (NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to identify shared etiology among NDDs, but this is the first genome-wide CNV analysis across autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), schizophrenia (SCZ), and obsessive-compulsive disorder (OCD) at once. Using microarray (Affymetrix CytoScan HD), we genotyped 2,691 subjects diagnosed with an NDD (204 SCZ, 1,838 ASD, 427 ADHD and 222 OCD) and 1,769 family members, mainly parents, from the province of Ontario, Canada. We identified rare CNVs, defined as those found in less than 0.1% of 10,851 population control samples. We found clinically relevant CNVs (broadly defined) in 284 (10.5%) of total subjects including 22 (10.8%) among subjects with SCZ, 209 (11.4%) with ASD, 40 (9.4%) with ADHD, and 13 (5.6%) with OCD. Among all NDD subjects, we identified 17 (0.63%) with aneuploidies and 115 (4.3%) with known genomic disorder variants. We searched further for genes impacted by different CNVs in multiple disorders. Examples of NDD-associated genes linked across more than one disorder (listed in order of occurrence) are NRXN1, SEH1L, LDLRAD4, GNAL, GNG13, MKRN1, DCTN2, KNDC1, PCMTD2, KIF5A, SYNM, and long non-coding RNAs: AK127244, NRON, and PTCHD1-AS. We demonstrated that identical CNVs or genes could potentially contribute to the etiology of multiple NDDs. The CNVs identified will serve as a useful resource for both research and diagnostic laboratories for prioritization of variants and clinical interpretations. See Variant Summary counts for nstd173 in dbVar Variant Summary.
Publication(s):
Zarrei et al. 2019

Detailed Information: Download 23548 Variant Regions, Download 91394 Variant Calls, Download Both, FTP

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Submitted: GRCh37 (hg19)

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.11Chr11,3517,097RemappedNC_000001.11
NC_000002.12Chr21,2276,077RemappedNC_000002.12
NC_000003.12Chr31,0043,584RemappedNC_000003.12
NC_000004.12Chr41,1064,683RemappedNC_000004.12
NC_000005.10Chr51,1215,220RemappedNC_000005.10
NC_000006.12Chr61,5666,783RemappedNC_000006.12
NC_000007.14Chr71,6585,227RemappedNC_000007.14
NC_000008.11Chr88593,862RemappedNC_000008.11
NC_000009.12Chr9613900RemappedNC_000009.12
NC_000010.11Chr109872,258RemappedNC_000010.11
NC_000011.10Chr111,1297,942RemappedNC_000011.10
NC_000012.12Chr128464,389RemappedNC_000012.12
NC_000013.11Chr135501,943RemappedNC_000013.11
NC_000014.9Chr142,6418,712RemappedNC_000014.9
NC_000015.10Chr15647970RemappedNC_000015.10
NC_000016.10Chr161,1243,568RemappedNC_000016.10
NC_000017.11Chr176803,464RemappedNC_000017.11
NC_000018.10Chr18217362RemappedNC_000018.10
NC_000019.10Chr196932,492RemappedNC_000019.10
NC_000020.11Chr203642,665RemappedNC_000020.11
NC_000021.9Chr21161252RemappedNC_000021.9
NC_000022.11Chr224191,251RemappedNC_000022.11
NC_000023.11ChrX1,5382,925RemappedNC_000023.11
NC_000024.10ChrY639884RemappedNC_000024.10
NT_187515.1Chr1|NT_187515.133RemappedNT_187515.1
NT_187516.1Chr1|NT_187516.19124RemappedNT_187516.1
NT_187518.1Chr1|NT_187518.12347RemappedNT_187518.1
NT_187519.1Chr1|NT_187519.155RemappedNT_187519.1
NT_187646.1Chr1|NT_187646.12246RemappedNT_187646.1
NW_011332687.1Chr1|NW_011332687.122RemappedNW_011332687.1
NW_011332688.1Chr1|NW_011332688.12139RemappedNW_011332688.1
NW_014040927.1Chr1|NW_014040927.111RemappedNW_014040927.1
NW_017852928.1Chr1|NW_017852928.11325RemappedNW_017852928.1
NW_018654707.1Chr1|NW_018654707.11042,715RemappedNW_018654707.1
NW_018654708.1Chr1|NW_018654708.111RemappedNW_018654708.1
NT_187522.1Chr2|NT_187522.111RemappedNT_187522.1
NT_187525.1Chr2|NT_187525.144RemappedNT_187525.1
NT_187529.1Chr2|NT_187529.111RemappedNT_187529.1
NW_011332690.1Chr2|NW_011332690.111RemappedNW_011332690.1
NT_187678.1Chr3|NT_187678.1910RemappedNT_187678.1
NT_187688.1Chr3|NT_187688.1910RemappedNT_187688.1
NT_187689.1Chr3|NT_187689.11011RemappedNT_187689.1
NT_187690.1Chr3|NT_187690.1910RemappedNT_187690.1
NT_187691.1Chr3|NT_187691.1910RemappedNT_187691.1
NT_187532.1Chr3|NT_187532.11011RemappedNT_187532.1
NT_187533.1Chr3|NT_187533.123RemappedNT_187533.1
NT_187534.1Chr3|NT_187534.133RemappedNT_187534.1
NT_187536.1Chr3|NT_187536.111RemappedNT_187536.1
NT_187537.1Chr3|NT_187537.123RemappedNT_187537.1
NT_187538.1Chr3|NT_187538.111RemappedNT_187538.1
NT_187539.1Chr3|NT_187539.11121RemappedNT_187539.1
NT_187649.1Chr3|NT_187649.1910RemappedNT_187649.1
NW_003315913.1Chr3|NW_003315913.122RemappedNW_003315913.1
NW_009646198.1Chr3|NW_009646198.145RemappedNW_009646198.1
NW_012132916.1Chr3|NW_012132916.122RemappedNW_012132916.1
NW_017363813.1Chr3|NW_017363813.111RemappedNW_017363813.1
NW_018654711.1Chr3|NW_018654711.1917RemappedNW_018654711.1
NW_019805488.1Chr3|NW_019805488.11599RemappedNW_019805488.1
NT_187679.1Chr4|NT_187679.188RemappedNT_187679.1
NT_187540.1Chr4|NT_187540.133RemappedNT_187540.1
NT_187541.1Chr4|NT_187541.123RemappedNT_187541.1
NT_187543.1Chr4|NT_187543.166RemappedNT_187543.1
NT_187650.1Chr4|NT_187650.166RemappedNT_187650.1
NW_003315915.1Chr4|NW_003315915.124566RemappedNW_003315915.1
NW_017363814.1Chr4|NW_017363814.133RemappedNW_017363814.1
NT_187546.1Chr5|NT_187546.11724RemappedNT_187546.1
NT_187547.1Chr5|NT_187547.133RemappedNT_187547.1
NT_187550.1Chr5|NT_187550.11111RemappedNT_187550.1
NT_187651.1Chr5|NT_187651.188RemappedNT_187651.1
NT_187652.1Chr5|NT_187652.11724RemappedNT_187652.1
NW_003315917.2Chr5|NW_003315917.299RemappedNW_003315917.2
NW_003315920.1Chr5|NW_003315920.1613RemappedNW_003315920.1
NW_003571036.1Chr5|NW_003571036.156RemappedNW_003571036.1
NW_016107297.1Chr5|NW_016107297.122RemappedNW_016107297.1
NW_016107298.1Chr5|NW_016107298.155RemappedNW_016107298.1
NT_187553.1Chr6|NT_187553.167RemappedNT_187553.1
NT_187555.1Chr6|NT_187555.111RemappedNT_187555.1
NT_187556.1Chr6|NT_187556.1915RemappedNT_187556.1
NT_187557.1Chr6|NT_187557.122RemappedNT_187557.1
NW_009646200.1Chr6|NW_009646200.122RemappedNW_009646200.1
NW_018654713.1Chr6|NW_018654713.1418RemappedNW_018654713.1
NT_187558.1Chr7|NT_187558.124275RemappedNT_187558.1
NT_187559.1Chr7|NT_187559.144RemappedNT_187559.1
NT_187560.1Chr7|NT_187560.111RemappedNT_187560.1
NT_187562.1Chr7|NT_187562.12951,162RemappedNT_187562.1
NT_187563.1Chr7|NT_187563.111RemappedNT_187563.1
NT_187653.1Chr7|NT_187653.124275RemappedNT_187653.1
NW_012132919.1Chr7|NW_012132919.122RemappedNW_012132919.1
NW_017852929.1Chr7|NW_017852929.134RemappedNW_017852929.1
NW_017852930.1Chr7|NW_017852930.111RemappedNW_017852930.1
NW_018654714.1Chr7|NW_018654714.133RemappedNW_018654714.1
NW_019805493.1Chr7|NW_019805493.179RemappedNW_019805493.1
NT_187680.1Chr8|NT_187680.11334RemappedNT_187680.1
NT_187565.1Chr8|NT_187565.133RemappedNT_187565.1
NT_187567.1Chr8|NT_187567.112RemappedNT_187567.1
NT_187568.1Chr8|NT_187568.123RemappedNT_187568.1
NT_187571.1Chr8|NT_187571.111RemappedNT_187571.1
NT_187576.1Chr8|NT_187576.14677RemappedNT_187576.1
NT_187577.1Chr8|NT_187577.122RemappedNT_187577.1
NT_187654.1Chr8|NT_187654.133RemappedNT_187654.1
NT_187655.1Chr8|NT_187655.133RemappedNT_187655.1
NW_018654717.1Chr8|NW_018654717.16791RemappedNW_018654717.1
NW_019805494.1Chr8|NW_019805494.133RemappedNW_019805494.1
NW_003315928.1Chr9|NW_003315928.122RemappedNW_003315928.1
NW_003315934.1Chr10|NW_003315934.11851RemappedNW_003315934.1
NW_003315935.1Chr10|NW_003315935.111RemappedNW_003315935.1
NW_009646202.1Chr10|NW_009646202.112RemappedNW_009646202.1
NW_013171806.1Chr10|NW_013171806.122RemappedNW_013171806.1
NW_013171807.1Chr10|NW_013171807.144RemappedNW_013171807.1
NT_187581.1Chr11|NT_187581.189RemappedNT_187581.1
NT_187583.1Chr11|NT_187583.123159RemappedNT_187583.1
NT_187586.1Chr11|NT_187586.111RemappedNT_187586.1
NW_003315936.1Chr11|NW_003315936.145RemappedNW_003315936.1
NW_011332695.1Chr11|NW_011332695.123159RemappedNW_011332695.1
NW_019805495.1Chr11|NW_019805495.189412RemappedNW_019805495.1
NW_019805496.1Chr11|NW_019805496.111RemappedNW_019805496.1
NW_019805497.1Chr11|NW_019805497.111RemappedNW_019805497.1
NT_187658.1Chr12|NT_187658.136350RemappedNT_187658.1
NT_187587.1Chr12|NT_187587.164305RemappedNT_187587.1
NT_187588.1Chr12|NT_187588.111RemappedNT_187588.1
NW_003315940.1Chr12|NW_003315940.111RemappedNW_003315940.1
NW_003571049.1Chr12|NW_003571049.111RemappedNW_003571049.1
NW_003571050.1Chr12|NW_003571050.166RemappedNW_003571050.1
NW_015148967.1Chr12|NW_015148967.155RemappedNW_015148967.1
NW_018654718.1Chr12|NW_018654718.138318RemappedNW_018654718.1
NW_018654720.1Chr12|NW_018654720.111RemappedNW_018654720.1
NW_019805499.1Chr12|NW_019805499.111RemappedNW_019805499.1
NT_187592.1Chr13|NT_187592.111RemappedNT_187592.1
NT_187593.1Chr13|NT_187593.124RemappedNT_187593.1
NT_187597.1Chr13|NT_187597.122RemappedNT_187597.1
NT_187599.1Chr14|NT_187599.111RemappedNT_187599.1
NT_187600.1Chr14|NT_187600.13911,726RemappedNT_187600.1
NT_187601.1Chr14|NT_187601.123RemappedNT_187601.1
NW_018654722.1Chr14|NW_018654722.125121RemappedNW_018654722.1
NT_187660.1Chr15|NT_187660.15671RemappedNT_187660.1
NT_187603.1Chr15|NT_187603.138RemappedNT_187603.1
NT_187605.1Chr15|NT_187605.1910RemappedNT_187605.1
NW_003315943.1Chr15|NW_003315943.145RemappedNW_003315943.1
NW_003315944.2Chr15|NW_003315944.222RemappedNW_003315944.2
NW_011332701.1Chr15|NW_011332701.16075RemappedNW_011332701.1
NT_187607.1Chr16|NT_187607.16163RemappedNT_187607.1
NT_187609.1Chr16|NT_187609.111RemappedNT_187609.1
NW_003315945.1Chr16|NW_003315945.1320RemappedNW_003315945.1
NW_003315946.1Chr16|NW_003315946.111RemappedNW_003315946.1
NW_012132921.1Chr16|NW_012132921.148RemappedNW_012132921.1
NW_013171813.1Chr16|NW_013171813.122RemappedNW_013171813.1
NW_017852933.1Chr16|NW_017852933.12846RemappedNW_017852933.1
NW_018654723.1Chr16|NW_018654723.111RemappedNW_018654723.1
NW_019805500.1Chr16|NW_019805500.111RemappedNW_019805500.1
NT_187661.1Chr17|NT_187661.1371,219RemappedNT_187661.1
NT_187662.1Chr17|NT_187662.122RemappedNT_187662.1
NT_187663.1Chr17|NT_187663.12591,669RemappedNT_187663.1
NT_187611.1Chr17|NT_187611.111RemappedNT_187611.1
NT_187612.1Chr17|NT_187612.166RemappedNT_187612.1
NT_187613.1Chr17|NT_187613.179RemappedNT_187613.1
NT_187614.1Chr17|NT_187614.11381,582RemappedNT_187614.1
NT_187616.1Chr17|NT_187616.111RemappedNT_187616.1
NW_003315952.3Chr17|NW_003315952.355RemappedNW_003315952.3
NW_003315953.2Chr17|NW_003315953.211RemappedNW_003315953.2
NW_003871091.1Chr17|NW_003871091.11223RemappedNW_003871091.1
NW_019805501.1Chr17|NW_019805501.111RemappedNW_019805501.1
NW_013171814.1Chr18|NW_013171814.111RemappedNW_013171814.1
NW_018654724.1Chr18|NW_018654724.133RemappedNW_018654724.1
NW_019805503.1Chr18|NW_019805503.1622RemappedNW_019805503.1
NT_187693.1Chr19|NT_187693.1156507RemappedNT_187693.1
NW_003571061.2Chr19|NW_003571061.234117RemappedNW_003571061.2
NW_003571057.2Chr19|NW_003571057.256RemappedNW_003571057.2
NW_003571058.2Chr19|NW_003571058.256RemappedNW_003571058.2
NW_003571059.2Chr19|NW_003571059.256RemappedNW_003571059.2
NW_003571060.1Chr19|NW_003571060.147305RemappedNW_003571060.1
NW_003571056.2Chr19|NW_003571056.256RemappedNW_003571056.2
NW_003571055.2Chr19|NW_003571055.279RemappedNW_003571055.2
NW_003315962.1Chr19|NW_003315962.11834RemappedNW_003315962.1
NW_003315965.1Chr19|NW_003315965.144RemappedNW_003315965.1
NW_003571054.1Chr19|NW_003571054.147307RemappedNW_003571054.1
NW_009646206.1Chr19|NW_009646206.111RemappedNW_009646206.1
NW_014040929.1Chr19|NW_014040929.111RemappedNW_014040929.1
NT_187624.1Chr20|NT_187624.138RemappedNT_187624.1
NT_187626.1Chr21|NT_187626.122RemappedNT_187626.1
NT_187628.1Chr21|NT_187628.111RemappedNT_187628.1
NW_003315968.2Chr21|NW_003315968.222RemappedNW_003315968.2
NT_187682.1Chr22|NT_187682.1725RemappedNT_187682.1
NW_015148969.1Chr22|NW_015148969.156RemappedNW_015148969.1
NT_187629.1Chr22|NT_187629.178RemappedNT_187629.1
NT_187632.1Chr22|NT_187632.111RemappedNT_187632.1
NT_187633.1Chr22|NT_187633.1321,495RemappedNT_187633.1
NT_187667.1ChrX|NT_187667.13941RemappedNT_187667.1
NW_017363820.1ChrX|NW_017363820.111RemappedNW_017363820.1
NT_187634.1ChrX|NT_187634.13941RemappedNT_187634.1
NW_018654726.1ChrY|NW_018654726.155RemappedNW_018654726.1
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.10Chr11,3857,135SubmittedNC_000001.10
NC_000002.11Chr21,2496,223SubmittedNC_000002.11
NC_000003.11Chr31,0003,579SubmittedNC_000003.11
NC_000004.11Chr41,1064,683SubmittedNC_000004.11
NC_000005.9Chr51,1215,220SubmittedNC_000005.9
NC_000006.11Chr61,5746,792SubmittedNC_000006.11
NC_000007.13Chr71,6975,280SubmittedNC_000007.13
NC_000008.10Chr88653,871SubmittedNC_000008.10
NC_000009.11Chr9616903SubmittedNC_000009.11
NC_000010.10Chr109892,260SubmittedNC_000010.10
NC_000011.9Chr111,1357,949SubmittedNC_000011.9
NC_000012.11Chr128464,389SubmittedNC_000012.11
NC_000013.10Chr135501,943SubmittedNC_000013.10
NC_000014.8Chr142,6529,816SubmittedNC_000014.8
NC_000015.9Chr15648971SubmittedNC_000015.9
NC_000016.9Chr161,1263,570SubmittedNC_000016.9
NC_000017.10Chr177693,814SubmittedNC_000017.10
NC_000018.9Chr18217362SubmittedNC_000018.9
NC_000019.9Chr198022,692SubmittedNC_000019.9
NC_000020.10Chr203642,665SubmittedNC_000020.10
NC_000021.8Chr21161252SubmittedNC_000021.8
NC_000022.10Chr224542,766SubmittedNC_000022.10
NC_000023.10ChrX1,5813,373SubmittedNC_000023.10
NC_000024.9ChrY641886SubmittedNC_000024.9

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.10Chr11,3851,01812030341837,1353,96413533382,965
NC_000002.11Chr21,2491,14326512276,2235,701283411467
NC_000003.11Chr31,0008815820593,5793,28912420164
NC_000004.11Chr41,1061,0303330404,6834,0356140583
NC_000005.9Chr51,1211,0422100585,2205,123240073
NC_000006.11Chr61,5741,49828164286,7926,6813423450
NC_000007.13Chr71,6971,233976403035,2803,6651198601,410
NC_000008.10Chr886569226631383,8713,60932105215
NC_000009.11Chr961660642229038934222
NC_000010.10Chr10989718601832262,2601,484293421260
NC_000011.9Chr111,135936412561277,9497,23854627588
NC_000012.11Chr128466914301484,3893,399430983
NC_000013.10Chr13550530114051,9431,91911607
NC_000014.8Chr142,6525101,66844114199,8163,2303,2304011,1041,851
NC_000015.9Chr1564849139431749717425578195
NC_000016.9Chr161,126862915121023,5703,19692202143
NC_000017.10Chr17769348493103413,814757585202,947
NC_000018.9Chr182171911420103623081414026
NC_000019.9Chr1980266456110712,6922,210116190347
NC_000020.10Chr2036435641032,6652,6524108
NC_000021.8Chr211611134300525218166005
NC_000022.10Chr22454285108450162,7662,47819376019
NC_000023.10ChrX1,58189139521243403,3731,86476225744842
NC_000024.9ChrY6416191052588685912825

Samplesets

Number of Samplesets: 3

Sampleset ID:
1
Name:
Neurodevelopmental disorder samples.
Sampleset Type:
Case
Description:
A collection of individuals diagnosed with, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), schizophrenia (SCZ), or obsessive-compulsive disorder (OCD).
Size:
2,691
Organisms:
Homo sapiens
Sampleset Phenotype(s):
See phenotypes on samples
  • Download Samples as CSV file
  • Samples for sampleset 1 (displaying 100 of the 2691 samples)
    Sample IDSubject ID SexEthnicitySubject Phenotype
    1-0139-0051-0139-005FemaleEuropeanAutism Spectrum Disorder
    1-0147-0031-0147-003FemaleSouthAsianAutism Spectrum Disorder
    1-0345-0051-0345-005MaleEuropeanAutism Spectrum Disorder
    1-0144-0051-0144-005MaleEuropeanAutism Spectrum Disorder
    1-0375-0031-0375-003MaleEuropeanAutism Spectrum Disorder
    1-0219-0031-0219-003MaleEuropeanAutism Spectrum Disorder
    1-0083-0031-0083-003MaleEastAsianAutism Spectrum Disorder
    1-0239-0031-0239-003MaleEastAsianAutism Spectrum Disorder
    1-0332-0031-0332-003MaleunknownAutism Spectrum Disorder
    1-0112-0031-0112-003MaleunknownAutism Spectrum Disorder
    1-0092-0041-0092-004MaleEuropeanAutism Spectrum Disorder
    1-0065-0041-0065-004MaleLatinAmericanAutism Spectrum Disorder
    1-0262-0031-0262-003MaleunknownAutism Spectrum Disorder
    1-0376-0031-0376-003MaleEuropeanAutism Spectrum Disorder
    1-0045-0031-0045-003MaleEuropeanAutism Spectrum Disorder
    1-0055-0031-0055-003MaleEuropeanAutism Spectrum Disorder
    1-0228-0031-0228-003MaleEuropeanAutism Spectrum Disorder
    1-0112-0041-0112-004MaleunknownAutism Spectrum Disorder
    1-0318-0041-0318-004MaleEuropeanAutism Spectrum Disorder
    1-0051-0051-0051-005MaleAfricanAutism Spectrum Disorder
    1-0055-0041-0055-004FemaleEuropeanAutism Spectrum Disorder
    1-0244-0031-0244-003MaleEuropeanAutism Spectrum Disorder
    1-0185-0041-0185-004MaleEuropeanAutism Spectrum Disorder
    1-0301-0031-0301-003MaleSouthAsianAutism Spectrum Disorder
    1-0346-0031-0346-003MaleEuropeanAutism Spectrum Disorder
    1-0298-0031-0298-003MaleEuropeanAutism Spectrum Disorder
    1-0286-0031-0286-003MaleEuropeanAutism Spectrum Disorder
    1-0269-0051-0269-005FemaleEuropeanAutism Spectrum Disorder
    1-0248-0031-0248-003MaleEuropeanAutism Spectrum Disorder
    1-0340-0041-0340-004MaleEuropeanAutism Spectrum Disorder
    1-0271-0041-0271-004FemaleEuropeanAutism Spectrum Disorder
    1-0043-0031-0043-003MaleEuropeanAutism Spectrum Disorder
    1-0045-0041-0045-004MaleEuropeanAutism Spectrum Disorder
    1-0098-0031-0098-003FemaleEuropeanAutism Spectrum Disorder
    1-0286-0041-0286-004FemaleEuropeanAutism Spectrum Disorder
    1-0231-0041-0231-004MaleEastAsianAutism Spectrum Disorder
    1-0158-0031-0158-003MaleEuropeanAutism Spectrum Disorder
    1-0057-0031-0057-003MaleEuropeanAutism Spectrum Disorder
    1-0269-0031-0269-003MaleEuropeanAutism Spectrum Disorder
    1-0290-0031-0290-003MaleEuropeanAutism Spectrum Disorder
    1-0139-0031-0139-003FemaleEuropeanAutism Spectrum Disorder
    1-0126-0031-0126-003MaleEuropeanAutism Spectrum Disorder
    1-0352-0031-0352-003MaleEuropeanAutism Spectrum Disorder
    1-0236-0041-0236-004FemaleEuropeanAutism Spectrum Disorder
    1-0344-0031-0344-003MaleLatinAmericanAutism Spectrum Disorder
    1-0004-0031-0004-003FemaleEuropeanAutism Spectrum Disorder
    1-0271-0031-0271-003MaleEuropeanAutism Spectrum Disorder
    1-0134-0041-0134-004MaleEuropeanAutism Spectrum Disorder
    1-0346-0041-0346-004MaleEuropeanAutism Spectrum Disorder
    1-0171-0051-0171-005MaleunknownAutism Spectrum Disorder
    1-0121-0031-0121-003MaleEastAsianAutism Spectrum Disorder
    1-0275-0031-0275-003MaleAfricanAutism Spectrum Disorder
    1-0389-0041-0389-004MaleEuropeanAutism Spectrum Disorder
    1-0025-0041-0025-004MaleEastAsianAutism Spectrum Disorder
    1-0216-0031-0216-003MaleSouthAsianAutism Spectrum Disorder
    1-0153-0051-0153-005MaleEuropeanAutism Spectrum Disorder
    1-0067-0041-0067-004MaleunknownAutism Spectrum Disorder
    1-0185-0031-0185-003FemaleEuropeanAutism Spectrum Disorder
    1-0006-0041-0006-004MaleEuropeanAutism Spectrum Disorder
    1-0262-0041-0262-004MaleunknownAutism Spectrum Disorder
    1-0224-0041-0224-004MaleEuropeanAutism Spectrum Disorder
    1-0171-0041-0171-004MaleunknownAutism Spectrum Disorder
    1-0181-0041-0181-004MaleEuropeanAutism Spectrum Disorder
    1-0190-0031-0190-003MaleSouthAsianAutism Spectrum Disorder
    1-0299-0041-0299-004MaleEuropeanAutism Spectrum Disorder
    1-0186-0041-0186-004MaleEuropeanAutism Spectrum Disorder
    1-0232-0031-0232-003MaleEuropeanAutism Spectrum Disorder
    1-0299-0031-0299-003MaleEuropeanAutism Spectrum Disorder
    1-0191-0041-0191-004MaleEuropeanAutism Spectrum Disorder
    1-0259-0051-0259-005MaleEuropeanAutism Spectrum Disorder
    1-0236-0031-0236-003MaleEuropeanAutism Spectrum Disorder
    1-0332-0051-0332-005MaleunknownAutism Spectrum Disorder
    1-0153-0041-0153-004MaleEuropeanAutism Spectrum Disorder
    1-0051-0041-0051-004MaleAfricanAutism Spectrum Disorder
    1-0261-0041-0261-004MaleSouthAsianAutism Spectrum Disorder
    1-0255-0031-0255-003MaleEastAsianAutism Spectrum Disorder
    1-0345-0031-0345-003FemaleEuropeanAutism Spectrum Disorder
    1-0261-0031-0261-003FemaleSouthAsianAutism Spectrum Disorder
    1-0382-0031-0382-003MaleEuropeanAutism Spectrum Disorder
    1-0232-0041-0232-004MaleEuropeanAutism Spectrum Disorder
    1-0035-0031-0035-003MaleEuropeanAutism Spectrum Disorder
    1-0403-0031-0403-003MaleEuropeanAutism Spectrum Disorder
    1-0081-0031-0081-003MaleEuropeanAutism Spectrum Disorder
    1-0208-0031-0208-003FemaleEuropeanAutism Spectrum Disorder
    1-0186-0051-0186-005MaleEuropeanAutism Spectrum Disorder
    1-0318-0031-0318-003MaleEuropeanAutism Spectrum Disorder
    1-0278-0031-0278-003MaleSouthAsianAutism Spectrum Disorder
    1-0263-0031-0263-003MaleEuropeanAutism Spectrum Disorder
    1-0323-0041-0323-004MaleEuropeanAutism Spectrum Disorder
    1-0135-0031-0135-003MaleEuropeanAutism Spectrum Disorder
    1-0345-0041-0345-004MaleEuropeanAutism Spectrum Disorder
    1-0389-0031-0389-003MaleEuropeanAutism Spectrum Disorder
    1-0144-0041-0144-004MaleunknownAutism Spectrum Disorder
    1-0051-0031-0051-003FemaleAfricanAutism Spectrum Disorder
    1-0059-0031-0059-003MaleEuropeanAutism Spectrum Disorder
    1-0025-0061-0025-006MaleEastAsianAutism Spectrum Disorder
    1-0231-0031-0231-003MaleEastAsianAutism Spectrum Disorder
    1-0013-0031-0013-003FemaleEastAsianAutism Spectrum Disorder
    1-0291-0031-0291-003MaleEuropeanAutism Spectrum Disorder
    1-0245-0061-0245-006MaleEuropeanAutism Spectrum Disorder
    Sampleset ID:
    2
    Name:
    Unaffected Family Member
    Sampleset Type:
    Control
    Size:
    1,769
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    Unaffected family member
  • Download Samples as CSV file
  • Samples for sampleset 2 (displaying 100 of the 1769 samples)
    Sample IDSubject ID SexEthnicitySubject Phenotype
    1-0059-0021-0059-002MaleEuropeanUnaffected family member
    1-0255-0011-0255-001FemaleEastAsianUnaffected family member
    1-0332-0021-0332-002MaleunknownUnaffected family member
    1-0112-0051-0112-005MaleunknownUnaffected family member
    1-0286-0021-0286-002MaleEuropeanUnaffected family member
    1-0190-0021-0190-002MaleSouthAsianUnaffected family member
    1-0059-0041-0059-004FemaleEuropeanUnaffected family member
    1-0153-0021-0153-002MaleEuropeanUnaffected family member
    1-0219-0021-0219-002MaleEuropeanUnaffected family member
    1-0244-0021-0244-002MaleunknownUnaffected family member
    1-0286-0011-0286-001FemaleEuropeanUnaffected family member
    1-0278-0041-0278-004FemaleSouthAsianUnaffected family member
    1-0208-0021-0208-002MaleEuropeanUnaffected family member
    1-0244-0011-0244-001FemaleEuropeanUnaffected family member
    1-0244-0041-0244-004FemaleEuropeanUnaffected family member
    1-0232-0011-0232-001FemaleEuropeanUnaffected family member
    1-0291-0041-0291-004FemaleEuropeanUnaffected family member
    1-0139-0041-0139-004MaleEuropeanUnaffected family member
    1-0112-0011-0112-001FemaleEuropeanUnaffected family member
    1-0228-0011-0228-001FemaleEuropeanUnaffected family member
    1-0171-0031-0171-003FemaleunknownUnaffected family member
    1-0181-0011-0181-001FemaleEuropeanUnaffected family member
    1-0139-0011-0139-001FemaleEuropeanUnaffected family member
    1-0332-0011-0332-001FemaleunknownUnaffected family member
    1-0153-0011-0153-001FemaleEuropeanUnaffected family member
    1-0236-0051-0236-005MaleEuropeanUnaffected family member
    1-0144-0011-0144-001FemaleunknownUnaffected family member
    1-0045-0021-0045-002MaleEuropeanUnaffected family member
    1-0045-0011-0045-001FemaleEuropeanUnaffected family member
    1-0144-0031-0144-003FemaleunknownUnaffected family member
    1-0139-0021-0139-002MaleEuropeanUnaffected family member
    1-0298-0021-0298-002MaleEuropeanUnaffected family member
    1-0083-0021-0083-002MaleEastAsianUnaffected family member
    1-0299-0021-0299-002MaleEuropeanUnaffected family member
    1-0092-0021-0092-002MaleEuropeanUnaffected family member
    1-0025-0051-0025-005FemaleEastAsianUnaffected family member
    1-0269-0021-0269-002MaleEuropeanUnaffected family member
    1-0224-0031-0224-003MaleEuropeanUnaffected family member
    1-0025-0021-0025-002MaleEastAsianUnaffected family member
    1-0092-0051-0092-005MaleEuropeanUnaffected family member
    1-0255-0021-0255-002MaleEastAsianUnaffected family member
    1-0262-0011-0262-001FemaleEuropeanUnaffected family member
    1-0228-0041-0228-004FemaleEuropeanUnaffected family member
    1-0190-0011-0190-001FemaleSouthAsianUnaffected family member
    1-0262-0021-0262-002MaleSouthAsianUnaffected family member
    1-0298-0041-0298-004FemaleEuropeanUnaffected family member
    1-0298-0011-0298-001FemaleEuropeanUnaffected family member
    1-0121-0011-0121-001FemaleEastAsianUnaffected family member
    1-0171-0011-0171-001FemaleunknownUnaffected family member
    1-0144-0021-0144-002MaleEuropeanUnaffected family member
    1-0051-0061-0051-006FemaleAfricanUnaffected family member
    1-0261-0021-0261-002MaleSouthAsianUnaffected family member
    1-0271-0021-0271-002MaleEuropeanUnaffected family member
    1-0278-0011-0278-001FemaleSouthAsianUnaffected family member
    1-0263-0041-0263-004FemaleEuropeanUnaffected family member
    1-0181-0021-0181-002MaleEuropeanUnaffected family member
    1-0269-0011-0269-001FemaleEuropeanUnaffected family member
    1-0055-0011-0055-001FemaleEuropeanUnaffected family member
    1-0171-0021-0171-002MaleEuropeanUnaffected family member
    1-0186-0011-0186-001FemaleEuropeanUnaffected family member
    1-0261-0011-0261-001FemaleSouthAsianUnaffected family member
    1-0232-0021-0232-002MaleEuropeanUnaffected family member
    1-0224-0021-0224-002MaleEuropeanUnaffected family member
    1-0186-0021-0186-002MaleEuropeanUnaffected family member
    1-0004-0011-0004-001FemaleEuropeanUnaffected family member
    1-0083-0011-0083-001FemaleEastAsianUnaffected family member
    1-0278-0021-0278-002MaleSouthAsianUnaffected family member
    1-0057-0011-0057-001FemaleEuropeanUnaffected family member
    1-0025-0011-0025-001FemaleEastAsianUnaffected family member
    1-0278-0051-0278-005FemaleSouthAsianUnaffected family member
    1-0228-0051-0228-005MaleEuropeanUnaffected family member
    1-0121-0021-0121-002MaleEastAsianUnaffected family member
    1-0004-0021-0004-002MaleEuropeanUnaffected family member
    1-0263-0021-0263-002MaleEuropeanUnaffected family member
    1-0059-0011-0059-001FemaleEuropeanUnaffected family member
    1-0051-0021-0051-002MaleAfricanUnaffected family member
    1-0291-0021-0291-002MaleEuropeanUnaffected family member
    1-0299-0011-0299-001FemaleEuropeanUnaffected family member
    1-0025-0031-0025-003MaleEastAsianUnaffected family member
    1-0275-0011-0275-001FemaleAfricanUnaffected family member
    1-0208-0011-0208-001FemaleEuropeanUnaffected family member
    1-0219-0041-0219-004FemaleEuropeanUnaffected family member
    1-0224-0011-0224-001FemaleEuropeanUnaffected family member
    1-0231-0021-0231-002MaleEastAsianUnaffected family member
    1-0004-0041-0004-004MaleEuropeanUnaffected family member
    1-0057-0021-0057-002MaleEuropeanUnaffected family member
    1-0244-0051-0244-005MaleEuropeanUnaffected family member
    1-0112-0021-0112-002MaleEastAsianUnaffected family member
    1-0271-0011-0271-001FemaleEuropeanUnaffected family member
    1-0051-0011-0051-001FemaleAfricanUnaffected family member
    1-0291-0051-0291-005MaleEuropeanUnaffected family member
    1-0236-0011-0236-001FemaleEuropeanUnaffected family member
    1-0263-0011-0263-001FemaleEuropeanUnaffected family member
    1-0219-0011-0219-001FemaleEuropeanUnaffected family member
    1-0291-0011-0291-001FemaleEuropeanUnaffected family member
    1-0083-0041-0083-004MaleEastAsianUnaffected family member
    1-0275-0021-0275-002MaleAfricanUnaffected family member
    1-0299-0051-0299-005FemaleEuropeanUnaffected family member
    1-0236-0021-0236-002MaleEuropeanUnaffected family member
    1-0092-0011-0092-001FemaleEuropeanUnaffected family member
    Sampleset ID:
    3
    Name:
    Affymetrix Pooled Reference
    Sampleset Type:
    Control
    Description:
    The Reference Model file in CytoScan Cytogenetics Suite includes 380 samples, which were run as part of a larger set of microarrays by nine operators. These operators processed~48 unique samples in two rounds each, with random placement of sample DNAs across the PCR plates and with random use of instruments and reagents. The source DNA includes the following samples: 284 HapMap samples including at least one replicate of each of 270 HapMap samples: 90 from each of the Yoruban, Asian, and Caucasian ethnic groups, from cell line-derived DNAs from the Coriell Institute of Medical Research. 96 DNA samples from blood of phenotypically healthy male and female individuals obtained from BioServe Biotechnologies
    Size:
    380 (sample data not available)
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    None reported

    Experimental Details

    Experiment IDTypeMethodAnalysisPlatformsNumber of Variant Calls
    1GenotypingSNP arrayGenotypingGPL1613191,394

    Validations

    No validation data were submitted for this study.

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