nsv567024
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:227,298
- Publication(s):Cooper 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: 3267 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 2711 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1298 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv567024 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 106,489,875 | 106,717,172 |
| nsv567024 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 106,945,882 | 107,172,419 |
| nsv567024 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 106,016,927 | 106,243,464 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1148798 | copy number loss | HGDP00490 | SNP array | SNP genotyping analysis | 13 |
| nssv1148799 | copy number loss | HGDP01034 | SNP array | SNP genotyping analysis | 5 |
| nssv1148800 | copy number gain | HGDP01088 | SNP array | SNP genotyping analysis | 10 |
| nssv1148801 | copy number loss | 1780862457_A | SNP array | SNP genotyping analysis | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1148798 | Remapped | Good | NC_000014.9:g.(?_1 06489875)_(1067171 72_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,489,875 | 106,717,172 |
| nssv1148799 | Remapped | Good | NC_000014.9:g.(?_1 06489875)_(1067171 72_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,489,875 | 106,717,172 |
| nssv1148800 | Remapped | Good | NC_000014.9:g.(?_1 06489875)_(1067171 72_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,489,875 | 106,717,172 |
| nssv1148801 | Remapped | Good | NC_000014.9:g.(?_1 06489875)_(1067171 72_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,489,875 | 106,717,172 |
| nssv1148798 | Remapped | Perfect | NC_000014.8:g.(?_1 06945882)_(1071724 19_?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 106,945,882 | 107,172,419 |
| nssv1148799 | Remapped | Perfect | NC_000014.8:g.(?_1 06945882)_(1071724 19_?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 106,945,882 | 107,172,419 |
| nssv1148800 | Remapped | Perfect | NC_000014.8:g.(?_1 06945882)_(1071724 19_?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 106,945,882 | 107,172,419 |
| nssv1148801 | Remapped | Perfect | NC_000014.8:g.(?_1 06945882)_(1071724 19_?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 106,945,882 | 107,172,419 |
| nssv1148798 | Submitted genomic | NC_000014.7:g.(?_1 06016927)_(1062434 64_?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 106,016,927 | 106,243,464 | ||
| nssv1148799 | Submitted genomic | NC_000014.7:g.(?_1 06016927)_(1062434 64_?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 106,016,927 | 106,243,464 | ||
| nssv1148800 | Submitted genomic | NC_000014.7:g.(?_1 06016927)_(1062434 64_?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 106,016,927 | 106,243,464 | ||
| nssv1148801 | Submitted genomic | NC_000014.7:g.(?_1 06016927)_(1062434 64_?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 106,016,927 | 106,243,464 |