nsv7581
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:9
- Validation:Yes
- Clinical Assertions: No
- Region Size:69,398
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000047367600_L10'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048270100_A17'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048272600_K22'
- TRACE: TEMPLATE_ID='1205562_ABC14_3_1_000001077722_L24'
- TRACE: TEMPLATE_ID='1205562_ABC14_3_1_000001078122_P7'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000050096400_A22'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000050097600_E22'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000050972100_K14'
- TRACE: TEMPLATE_ID='1210216_ABC14_4_1_000050405300_C6'
- TRACE: TEMPLATE_ID='164897_ABC7_000040649600_J3'
- TRACE: TEMPLATE_ID='164897_ABC7_000040659100_F10'
- TRACE: TEMPLATE_ID='165434_ABC7_000042455700_H14'
- TRACE: TEMPLATE_ID='166910_ABC8_000042071200_C2'
- TRACE: TEMPLATE_ID='167000_ABC8_000002115240_J10'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000000738722_C21'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000041085500_N7'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000041101100_O18'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000043744100_A18'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000041261400_C17'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000041261500_H10'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000043838500_F6'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000043881900_N23'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000043882500_B17'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000046004800_K4'
- TRACE: TEMPLATE_ID='171515_ABC9_3_5_000043903500_B14'
- TRACE: TEMPLATE_ID='171515_ABC9_3_5_000043919800_H17'
- TRACE: TEMPLATE_ID='171515_ABC9_3_5_000043946500_N14'
- TRACE: TEMPLATE_ID='171515_ABC9_3_5_000043959200_L9'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000043972200_O24'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000043986000_F3'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000043997500_N23'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000044005000_B2'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000044011700_F21'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000044027300_I24'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000044033400_B21'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000044035900_L8'
- TRACE: TEMPLATE_ID='174552_ABC10_2_1_000044680700_C10'
- TRACE: TEMPLATE_ID='174552_ABC10_2_1_000044686200_I17'
- TRACE: TEMPLATE_ID='174779_ABC12_000046626100_O21'
- TRACE: TEMPLATE_ID='174779_ABC12_000046817000_P19'
- TRACE: TEMPLATE_ID='174779_ABC12_000046841600_K2'
- TRACE: TEMPLATE_ID='174779_ABC12_000049041000_O3'
- TRACE: TEMPLATE_ID='174779_ABC12_000049053600_G14'
- TRACE: TEMPLATE_ID='174779_ABC12_000049065700_O12'
- TRACE: TEMPLATE_ID='G248P802685B5'
- TRACE: TEMPLATE_ID='G248P80430H7'
- TRACE: TEMPLATE_ID='G248P80659F9'
- TRACE: TEMPLATE_ID='G248P83332D4'
- TRACE: TEMPLATE_ID='G248P83334E10'
- TRACE: TEMPLATE_ID='G248P87595D6'
- TRACE: TEMPLATE_ID='G248P87874C12'
- TRACE: TEMPLATE_ID='G248P8788H3'
- TRACE: TEMPLATE_ID='G248P8802E11'
- TRACE: TEMPLATE_ID='G248P88541B11'
- TRACE: TEMPLATE_ID='G248P89063A2'
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 869 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 869 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 6 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv7581 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 122,569,936 | 122,639,333 |
nsv7581 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 124,329,452 | 124,398,849 |
nsv7581 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000010.8 | Chr10 | 124,319,442 | 124,388,839 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv6422 | deletion | NA12156 | Sequencing | Paired-end mapping | 3,265 |
nssv10781 | deletion | NA18956 | Sequencing | Paired-end mapping | 905 |
nssv9808 | deletion | NA18507 | Sequencing | Paired-end mapping | 489 |
nssv967 | deletion | NA19240 | Sequencing | Paired-end mapping | 1,381 |
nssv1912 | deletion | NA18555 | Sequencing | Paired-end mapping | 1,472 |
nssv3903 | deletion | NA12878 | Sequencing | Paired-end mapping | 1,451 |
nssv11244 | deletion | SAMN00000376 | Sequencing | Paired-end mapping | 366 |
nssv9263 | deletion | SAMN00001588 | Sequencing | Paired-end mapping | 237 |
nssv10782 | deletion | NA18956 | Sequencing | Paired-end mapping | 905 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv6422 | Remapped | Perfect | NC_000010.11:g.(12 2569936_?)_(?_1225 99544)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 122,569,936 | 122,599,544 |
nssv10781 | Remapped | Perfect | NC_000010.11:g.(12 2574135_?)_(?_1225 99030)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 122,574,135 | 122,599,030 |
nssv9808 | Remapped | Perfect | NC_000010.11:g.(12 2587119_?)_(?_1226 30128)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 122,587,119 | 122,630,128 |
nssv967 | Remapped | Perfect | NC_000010.11:g.(12 2590228_?)_(?_1226 37151)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 122,590,228 | 122,637,151 |
nssv1912 | Remapped | Perfect | NC_000010.11:g.(12 2591027_?)_(?_1226 21213)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 122,591,027 | 122,621,213 |
nssv3903 | Remapped | Perfect | NC_000010.11:g.(12 2594113_?)_(?_1226 26721)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 122,594,113 | 122,626,721 |
nssv11244 | Remapped | Perfect | NC_000010.11:g.(12 2598443_?)_(?_1226 27790)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 122,598,443 | 122,627,790 |
nssv9263 | Remapped | Perfect | NC_000010.11:g.(12 2599156_?)_(?_1226 33561)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 122,599,156 | 122,633,561 |
nssv10782 | Remapped | Perfect | NC_000010.11:g.(12 2600633_?)_(?_1226 39333)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 122,600,633 | 122,639,333 |
nssv6422 | Remapped | Perfect | NC_000010.10:g.(12 4329452_?)_(?_1243 59060)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 124,329,452 | 124,359,060 |
nssv10781 | Remapped | Perfect | NC_000010.10:g.(12 4333651_?)_(?_1243 58546)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 124,333,651 | 124,358,546 |
nssv9808 | Remapped | Perfect | NC_000010.10:g.(12 4346635_?)_(?_1243 89644)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 124,346,635 | 124,389,644 |
nssv967 | Remapped | Perfect | NC_000010.10:g.(12 4349744_?)_(?_1243 96667)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 124,349,744 | 124,396,667 |
nssv1912 | Remapped | Perfect | NC_000010.10:g.(12 4350543_?)_(?_1243 80729)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 124,350,543 | 124,380,729 |
nssv3903 | Remapped | Perfect | NC_000010.10:g.(12 4353629_?)_(?_1243 86237)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 124,353,629 | 124,386,237 |
nssv11244 | Remapped | Perfect | NC_000010.10:g.(12 4357959_?)_(?_1243 87306)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 124,357,959 | 124,387,306 |
nssv9263 | Remapped | Perfect | NC_000010.10:g.(12 4358672_?)_(?_1243 93077)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 124,358,672 | 124,393,077 |
nssv10782 | Remapped | Perfect | NC_000010.10:g.(12 4360149_?)_(?_1243 98849)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 124,360,149 | 124,398,849 |
nssv6422 | Submitted genomic | NC_000010.8:g.(124 319442_?)_(?_12434 9050)del18392 | NCBI35 (hg17) | NC_000010.8 | Chr10 | 124,319,442 | 124,349,050 | ||
nssv10781 | Submitted genomic | NC_000010.8:g.(124 323641_?)_(?_12434 8536)del21537 | NCBI35 (hg17) | NC_000010.8 | Chr10 | 124,323,641 | 124,348,536 | ||
nssv9808 | Submitted genomic | NC_000010.8:g.(124 336625_?)_(?_12437 9634)del14085 | NCBI35 (hg17) | NC_000010.8 | Chr10 | 124,336,625 | 124,379,634 | ||
nssv967 | Submitted genomic | NC_000010.8:g.(124 339734_?)_(?_12438 6657)del5924 | NCBI35 (hg17) | NC_000010.8 | Chr10 | 124,339,734 | 124,386,657 | ||
nssv1912 | Submitted genomic | NC_000010.8:g.(124 340533_?)_(?_12437 0719)del23036 | NCBI35 (hg17) | NC_000010.8 | Chr10 | 124,340,533 | 124,370,719 | ||
nssv3903 | Submitted genomic | NC_000010.8:g.(124 343619_?)_(?_12437 6227)del5286 | NCBI35 (hg17) | NC_000010.8 | Chr10 | 124,343,619 | 124,376,227 | ||
nssv11244 | Submitted genomic | NC_000010.8:g.(124 347949_?)_(?_12437 7296)del13605 | NCBI35 (hg17) | NC_000010.8 | Chr10 | 124,347,949 | 124,377,296 | ||
nssv9263 | Submitted genomic | NC_000010.8:g.(124 348662_?)_(?_12438 3067)del18366 | NCBI35 (hg17) | NC_000010.8 | Chr10 | 124,348,662 | 124,383,067 | ||
nssv10782 | Submitted genomic | NC_000010.8:g.(124 350139_?)_(?_12438 8839)del21671 | NCBI35 (hg17) | NC_000010.8 | Chr10 | 124,350,139 | 124,388,839 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
nssv10781 | 3 | NA18956 | Multiple complete digestion | MCD analysis | Pass |
nssv10782 | 3 | NA18956 | Multiple complete digestion | MCD analysis | Pass |
nssv11244 | 3 | SAMN00000376 | Multiple complete digestion | MCD analysis | Pass |
nssv6422 | 5 | NA12156 | Oligo aCGH | Probe signal intensity | Pass |
nssv6422 | 6 | NA12156 | Oligo aCGH | Probe signal intensity | Pass |
nssv1912 | 5 | NA18555 | Oligo aCGH | Probe signal intensity | Pass |
nssv1912 | 6 | NA18555 | Oligo aCGH | Probe signal intensity | Pass |
nssv10781 | 5 | NA18956 | Oligo aCGH | Probe signal intensity | Pass |
nssv10781 | 6 | NA18956 | Oligo aCGH | Probe signal intensity | Pass |
nssv10782 | 6 | NA18956 | Oligo aCGH | Probe signal intensity | Pass |
nssv967 | 5 | NA19240 | Oligo aCGH | Probe signal intensity | Pass |
nssv967 | 6 | NA19240 | Oligo aCGH | Probe signal intensity | Pass |
nssv9263 | 5 | SAMN00001588 | Oligo aCGH | Probe signal intensity | Pass |
nssv11244 | 2 | SAMN00000376 | Sequencing | Sequence alignment | Pass |