nsv890306
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:108,892
- Publication(s):Xu et al. 2011
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: 1965 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 491 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 1965 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1501 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv890306 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 7,836,263 | 7,854,519 | 7,935,485 | 7,945,154 |
| nsv890306 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 5,433,556 | 5,433,556 | 5,513,617 | - |
| nsv890306 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 7,693,785 | 7,712,041 | 7,793,007 | 7,802,676 |
| nsv890306 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 7,731,195 | 7,749,451 | 7,830,417 | 7,840,086 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1523041 | copy number gain | SP53585 | SNP array | SNP genotyping analysis | 7 |
| nssv1524329 | copy number loss | SP54975 | SNP array | SNP genotyping analysis | nssv1524327, nssv1524328, nssv1524330 |
| nssv1525127 | copy number gain | SP55513 | SNP array | SNP genotyping analysis | 14 |
| nssv1525318 | copy number loss | SP56418 | SNP array | SNP genotyping analysis | 13 |
| nssv1572394 | copy number gain | IS33027 | SNP array | SNP genotyping analysis | 16 |
| nssv1575792 | copy number gain | IS33800 | SNP array | SNP genotyping analysis | 14 |
| nssv1578228 | copy number gain | IS34737 | SNP array | SNP genotyping analysis | 18 |
| nssv1585510 | copy number gain | IS37488 | SNP array | SNP genotyping analysis | nssv1585509, nssv1585508, nssv1585507 |
| nssv1597714 | copy number gain | IS41243 | SNP array | SNP genotyping analysis | 94 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1523041 | Remapped | Pass | NW_018654717.1:g.( 5433556_5433556)_( 5513617_?)dup | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 5,433,556 | 5,433,556 | 5,513,617 | - |
| nssv1524329 | Remapped | Pass | NW_018654717.1:g.( 5433556_5433556)_( 5513617_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 5,433,556 | 5,433,556 | 5,513,617 | - |
| nssv1525127 | Remapped | Pass | NW_018654717.1:g.( 5433556_5433556)_( 5513617_?)dup | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 5,433,556 | 5,433,556 | 5,513,617 | - |
| nssv1525318 | Remapped | Pass | NW_018654717.1:g.( 5433556_5433556)_( 5513617_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 5,433,556 | 5,433,556 | 5,513,617 | - |
| nssv1572394 | Remapped | Pass | NW_018654717.1:g.( 5433556_5433556)_( 5513617_?)dup | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 5,433,556 | 5,433,556 | 5,513,617 | - |
| nssv1575792 | Remapped | Pass | NW_018654717.1:g.( 5433556_5433556)_( 5513617_?)dup | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 5,433,556 | 5,433,556 | 5,513,617 | - |
| nssv1578228 | Remapped | Pass | NW_018654717.1:g.( 5433556_5433556)_( 5513617_?)dup | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 5,433,556 | 5,433,556 | 5,513,617 | - |
| nssv1585510 | Remapped | Pass | NW_018654717.1:g.( 5433556_5433556)_( 5513617_?)dup | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 5,433,556 | 5,433,556 | 5,513,617 | - |
| nssv1597714 | Remapped | Pass | NW_018654717.1:g.( 5433556_5433556)_( 5513617_?)dup | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 5,433,556 | 5,433,556 | 5,513,617 | - |
| nssv1523041 | Remapped | Perfect | NC_000008.11:g.(78 36263_7854519)_(79 35485_7945154)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 7,836,263 | 7,854,519 | 7,935,485 | 7,945,154 |
| nssv1524329 | Remapped | Perfect | NC_000008.11:g.(78 36263_7854519)_(79 35485_7945154)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 7,836,263 | 7,854,519 | 7,935,485 | 7,945,154 |
| nssv1525127 | Remapped | Perfect | NC_000008.11:g.(78 36263_7854519)_(79 35485_7945154)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 7,836,263 | 7,854,519 | 7,935,485 | 7,945,154 |
| nssv1525318 | Remapped | Perfect | NC_000008.11:g.(78 36263_7854519)_(79 35485_7945154)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 7,836,263 | 7,854,519 | 7,935,485 | 7,945,154 |
| nssv1572394 | Remapped | Perfect | NC_000008.11:g.(78 36263_7854519)_(79 35485_7945154)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 7,836,263 | 7,854,519 | 7,935,485 | 7,945,154 |
| nssv1575792 | Remapped | Perfect | NC_000008.11:g.(78 36263_7854519)_(79 35485_7945154)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 7,836,263 | 7,854,519 | 7,935,485 | 7,945,154 |
| nssv1578228 | Remapped | Perfect | NC_000008.11:g.(78 36263_7854519)_(79 35485_7945154)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 7,836,263 | 7,854,519 | 7,935,485 | 7,945,154 |
| nssv1585510 | Remapped | Perfect | NC_000008.11:g.(78 36263_7854519)_(79 35485_7945154)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 7,836,263 | 7,854,519 | 7,935,485 | 7,945,154 |
| nssv1597714 | Remapped | Perfect | NC_000008.11:g.(78 36263_7854519)_(79 35485_7945154)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 7,836,263 | 7,854,519 | 7,935,485 | 7,945,154 |
| nssv1523041 | Remapped | Perfect | NC_000008.10:g.(76 93785_7712041)_(77 93007_7802676)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 7,693,785 | 7,712,041 | 7,793,007 | 7,802,676 |
| nssv1524329 | Remapped | Perfect | NC_000008.10:g.(76 93785_7712041)_(77 93007_7802676)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 7,693,785 | 7,712,041 | 7,793,007 | 7,802,676 |
| nssv1525127 | Remapped | Perfect | NC_000008.10:g.(76 93785_7712041)_(77 93007_7802676)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 7,693,785 | 7,712,041 | 7,793,007 | 7,802,676 |
| nssv1525318 | Remapped | Perfect | NC_000008.10:g.(76 93785_7712041)_(77 93007_7802676)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 7,693,785 | 7,712,041 | 7,793,007 | 7,802,676 |
| nssv1572394 | Remapped | Perfect | NC_000008.10:g.(76 93785_7712041)_(77 93007_7802676)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 7,693,785 | 7,712,041 | 7,793,007 | 7,802,676 |
| nssv1575792 | Remapped | Perfect | NC_000008.10:g.(76 93785_7712041)_(77 93007_7802676)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 7,693,785 | 7,712,041 | 7,793,007 | 7,802,676 |
| nssv1578228 | Remapped | Perfect | NC_000008.10:g.(76 93785_7712041)_(77 93007_7802676)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 7,693,785 | 7,712,041 | 7,793,007 | 7,802,676 |
| nssv1585510 | Remapped | Perfect | NC_000008.10:g.(76 93785_7712041)_(77 93007_7802676)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 7,693,785 | 7,712,041 | 7,793,007 | 7,802,676 |
| nssv1597714 | Remapped | Perfect | NC_000008.10:g.(76 93785_7712041)_(77 93007_7802676)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 7,693,785 | 7,712,041 | 7,793,007 | 7,802,676 |
| nssv1523041 | Submitted genomic | NC_000008.9:g.(773 1195_7749451)_(783 0417_7840086)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 7,731,195 | 7,749,451 | 7,830,417 | 7,840,086 | ||
| nssv1524329 | Submitted genomic | NC_000008.9:g.(773 1195_7749451)_(783 0417_7840086)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 7,731,195 | 7,749,451 | 7,830,417 | 7,840,086 | ||
| nssv1525127 | Submitted genomic | NC_000008.9:g.(773 1195_7749451)_(783 0417_7840086)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 7,731,195 | 7,749,451 | 7,830,417 | 7,840,086 | ||
| nssv1525318 | Submitted genomic | NC_000008.9:g.(773 1195_7749451)_(783 0417_7840086)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 7,731,195 | 7,749,451 | 7,830,417 | 7,840,086 | ||
| nssv1572394 | Submitted genomic | NC_000008.9:g.(773 1195_7749451)_(783 0417_7840086)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 7,731,195 | 7,749,451 | 7,830,417 | 7,840,086 | ||
| nssv1575792 | Submitted genomic | NC_000008.9:g.(773 1195_7749451)_(783 0417_7840086)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 7,731,195 | 7,749,451 | 7,830,417 | 7,840,086 | ||
| nssv1578228 | Submitted genomic | NC_000008.9:g.(773 1195_7749451)_(783 0417_7840086)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 7,731,195 | 7,749,451 | 7,830,417 | 7,840,086 | ||
| nssv1585510 | Submitted genomic | NC_000008.9:g.(773 1195_7749451)_(783 0417_7840086)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 7,731,195 | 7,749,451 | 7,830,417 | 7,840,086 | ||
| nssv1597714 | Submitted genomic | NC_000008.9:g.(773 1195_7749451)_(783 0417_7840086)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 7,731,195 | 7,749,451 | 7,830,417 | 7,840,086 |