nsv603924
- 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:63,967
- 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: 2364 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2364 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1049 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv603924 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,267,950 | 78,331,916 |
| nsv603924 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,977,667 | 79,041,633 |
| nsv603924 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 79,034,386 | 79,098,352 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1066802 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1066803 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1155052 | copy number gain | HGDP01356 | SNP array | SNP genotyping analysis | 5 |
| nssv1155053 | copy number gain | 1780862435_A | SNP array | SNP genotyping analysis | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1066802 | Remapped | Perfect | NC_000006.12:g.(?_ 78267950)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,267,950 | 78,331,916 |
| nssv1066803 | Remapped | Perfect | NC_000006.12:g.(?_ 78267950)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,267,950 | 78,331,916 |
| nssv1155052 | Remapped | Perfect | NC_000006.12:g.(?_ 78267950)_(7833191 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,267,950 | 78,331,916 |
| nssv1155053 | Remapped | Perfect | NC_000006.12:g.(?_ 78267950)_(7833191 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,267,950 | 78,331,916 |
| nssv1066802 | Remapped | Perfect | NC_000006.11:g.(?_ 78977667)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,977,667 | 79,041,633 |
| nssv1066803 | Remapped | Perfect | NC_000006.11:g.(?_ 78977667)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,977,667 | 79,041,633 |
| nssv1155052 | Remapped | Perfect | NC_000006.11:g.(?_ 78977667)_(7904163 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,977,667 | 79,041,633 |
| nssv1155053 | Remapped | Perfect | NC_000006.11:g.(?_ 78977667)_(7904163 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,977,667 | 79,041,633 |
| nssv1066802 | Submitted genomic | NC_000006.10:g.(?_ 79034386)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,034,386 | 79,098,352 | ||
| nssv1066803 | Submitted genomic | NC_000006.10:g.(?_ 79034386)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,034,386 | 79,098,352 | ||
| nssv1155052 | Submitted genomic | NC_000006.10:g.(?_ 79034386)_(7909835 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,034,386 | 79,098,352 | ||
| nssv1155053 | Submitted genomic | NC_000006.10:g.(?_ 79034386)_(7909835 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,034,386 | 79,098,352 |