nsv6391
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:65,969
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1200277_ABC11_000047241900_B15'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048008300_B2'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048223700_E18'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048271500_N6'
- TRACE: TEMPLATE_ID='1200277_ABC11_2_1_000048333400_K15'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000048023200_C9'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000048431300_O20'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049441100_J9'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049441900_E14'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049644700_O10'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000047478000_G20'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000048558400_L16'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000048573500_C8'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000049747900_B3'
- TRACE: TEMPLATE_ID='1204935_ABC13_11_000048713600_O3'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000001023522_H4'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048844500_P20'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048846100_A9'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048851700_J18'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048876600_H1'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048876600_J1'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000050967600_P17'
- TRACE: TEMPLATE_ID='1210216_ABC14_4_1_000050195600_A7'
- TRACE: TEMPLATE_ID='1210216_ABC14_4_1_000050197900_B22'
- TRACE: TEMPLATE_ID='164897_ABC7_000040642800_M19'
- TRACE: TEMPLATE_ID='165532_ABC7_000042458700_J18'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000000706922_D21'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000000775522_F10'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000041093500_F23'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000041095500_H22'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000041106300_N17'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000041127700_K3'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000041296000_C24'
- TRACE: TEMPLATE_ID='171417_ABC10_2_1_000044443700_N9'
- TRACE: TEMPLATE_ID='171417_ABC10_2_1_000045500900_B16'
- TRACE: TEMPLATE_ID='171417_ABC10_2_1_000045519500_F19'
- TRACE: TEMPLATE_ID='171418_ABC10_3_1_000000441950_D4'
- TRACE: TEMPLATE_ID='171515_ABC9_3_5_000043915900_P2'
- TRACE: TEMPLATE_ID='171515_ABC9_3_5_000043926100_D17'
- TRACE: TEMPLATE_ID='171515_ABC9_3_5_000043938600_F23'
- TRACE: TEMPLATE_ID='172343_ABC9_3_5_000044049400_O18'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000043607600_H8'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044495200_F6'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044530300_P9'
- TRACE: TEMPLATE_ID='174222_ABC10_2_1_000044558200_P2'
- TRACE: TEMPLATE_ID='174222_ABC10_2_1_000044589600_B18'
- TRACE: TEMPLATE_ID='174552_ABC10_2_1_000001612170_A11'
- TRACE: TEMPLATE_ID='174552_ABC10_2_1_000044680600_B5'
- TRACE: TEMPLATE_ID='174552_ABC10_2_1_000044747300_G5'
- TRACE: TEMPLATE_ID='174552_ABC10_2_1_000048928200_B16'
- TRACE: TEMPLATE_ID='174779_ABC12_000046337300_J5'
- TRACE: TEMPLATE_ID='174779_ABC12_000046788400_D5'
- TRACE: TEMPLATE_ID='174779_ABC12_000046791000_D16'
- TRACE: TEMPLATE_ID='174779_ABC12_000046947900_B2'
- TRACE: TEMPLATE_ID='174779_ABC12_000047015700_B23'
- TRACE: TEMPLATE_ID='174779_ABC12_000049097000_A12'
- TRACE: TEMPLATE_ID='174779_ABC12_000049114000_L19'
- TRACE: TEMPLATE_ID='174779_ABC12_000049228600_J3'
- TRACE: TEMPLATE_ID='178925_ABC12_000047945000_L22'
- TRACE: TEMPLATE_ID='178925_ABC12_000049237500_N20'
- 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: 444 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 444 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 37 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6391 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 128,422,313 | 128,488,281 |
| nsv6391 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 129,434,559 | 129,500,527 |
| nsv6391 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 129,503,741 | 129,569,709 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv6253 | deletion | NA12156 | Sequencing | Paired-end mapping | 3,265 |
| nssv772 | deletion | NA19240 | Sequencing | Paired-end mapping | 1,381 |
| nssv9469 | deletion | SAMN00001588 | Sequencing | Paired-end mapping | 237 |
| nssv9918 | deletion | NA18507 | Sequencing | Paired-end mapping | 489 |
| nssv5128 | deletion | NA19129 | Sequencing | Paired-end mapping | 1,384 |
| nssv10642 | deletion | NA18956 | Sequencing | Paired-end mapping | 905 |
| nssv3688 | deletion | NA12878 | Sequencing | Paired-end mapping | 1,451 |
| nssv1769 | deletion | NA18555 | Sequencing | Paired-end mapping | 1,472 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv6253 | Remapped | Perfect | NC_000008.11:g.(12 8422313_?)_(?_1284 63906)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 128,422,313 | 128,463,906 |
| nssv772 | Remapped | Perfect | NC_000008.11:g.(12 8439979_?)_(?_1284 66793)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 128,439,979 | 128,466,793 |
| nssv9469 | Remapped | Perfect | NC_000008.11:g.(12 8441763_?)_(?_1284 88281)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 128,441,763 | 128,488,281 |
| nssv9918 | Remapped | Perfect | NC_000008.11:g.(12 8444116_?)_(?_1284 63152)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 128,444,116 | 128,463,152 |
| nssv5128 | Remapped | Perfect | NC_000008.11:g.(12 8447904_?)_(?_1284 75651)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 128,447,904 | 128,475,651 |
| nssv10642 | Remapped | Perfect | NC_000008.11:g.(12 8448696_?)_(?_1284 60807)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 128,448,696 | 128,460,807 |
| nssv3688 | Remapped | Perfect | NC_000008.11:g.(12 8449130_?)_(?_1284 59464)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 128,449,130 | 128,459,464 |
| nssv1769 | Remapped | Perfect | NC_000008.11:g.(12 8449346_?)_(?_1284 63279)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 128,449,346 | 128,463,279 |
| nssv6253 | Remapped | Perfect | NC_000008.10:g.(12 9434559_?)_(?_1294 76152)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,434,559 | 129,476,152 |
| nssv772 | Remapped | Perfect | NC_000008.10:g.(12 9452225_?)_(?_1294 79039)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,452,225 | 129,479,039 |
| nssv9469 | Remapped | Perfect | NC_000008.10:g.(12 9454009_?)_(?_1295 00527)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,454,009 | 129,500,527 |
| nssv9918 | Remapped | Perfect | NC_000008.10:g.(12 9456362_?)_(?_1294 75398)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,456,362 | 129,475,398 |
| nssv5128 | Remapped | Perfect | NC_000008.10:g.(12 9460150_?)_(?_1294 87897)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,460,150 | 129,487,897 |
| nssv10642 | Remapped | Perfect | NC_000008.10:g.(12 9460942_?)_(?_1294 73053)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,460,942 | 129,473,053 |
| nssv3688 | Remapped | Perfect | NC_000008.10:g.(12 9461376_?)_(?_1294 71710)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,461,376 | 129,471,710 |
| nssv1769 | Remapped | Perfect | NC_000008.10:g.(12 9461592_?)_(?_1294 75525)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,461,592 | 129,475,525 |
| nssv6253 | Submitted genomic | NC_000008.9:g.(129 503741_?)_(?_12954 5334)del7105 | NCBI35 (hg17) | NC_000008.9 | Chr8 | 129,503,741 | 129,545,334 | ||
| nssv772 | Submitted genomic | NC_000008.9:g.(129 521407_?)_(?_12954 8221)del7544 | NCBI35 (hg17) | NC_000008.9 | Chr8 | 129,521,407 | 129,548,221 | ||
| nssv9469 | Submitted genomic | NC_000008.9:g.(129 523191_?)_(?_12956 9709)del12128 | NCBI35 (hg17) | NC_000008.9 | Chr8 | 129,523,191 | 129,569,709 | ||
| nssv9918 | Submitted genomic | NC_000008.9:g.(129 525544_?)_(?_12954 4580)del7748 | NCBI35 (hg17) | NC_000008.9 | Chr8 | 129,525,544 | 129,544,580 | ||
| nssv5128 | Submitted genomic | NC_000008.9:g.(129 529332_?)_(?_12955 7079)del6825 | NCBI35 (hg17) | NC_000008.9 | Chr8 | 129,529,332 | 129,557,079 | ||
| nssv10642 | Submitted genomic | NC_000008.9:g.(129 530124_?)_(?_12954 2235)del7366 | NCBI35 (hg17) | NC_000008.9 | Chr8 | 129,530,124 | 129,542,235 | ||
| nssv3688 | Submitted genomic | NC_000008.9:g.(129 530558_?)_(?_12954 0892)del6031 | NCBI35 (hg17) | NC_000008.9 | Chr8 | 129,530,558 | 129,540,892 | ||
| nssv1769 | Submitted genomic | NC_000008.9:g.(129 530774_?)_(?_12954 4707)del6058 | NCBI35 (hg17) | NC_000008.9 | Chr8 | 129,530,774 | 129,544,707 |