nsv603836
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:76,109
- 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: 2435 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2435 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1075 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv603836 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,331,916 |
| nsv603836 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,041,633 |
| nsv603836 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 79,022,244 | 79,098,352 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1065641 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1065642 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1065643 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1065644 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1065645 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1065646 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1065647 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1065648 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1154169 | copy number loss | HGDP00927 | SNP array | SNP genotyping analysis | 10 |
| nssv1154170 | copy number loss | HGDP01091 | SNP array | SNP genotyping analysis | 11 |
| nssv1154171 | copy number loss | HGDP01372 | SNP array | SNP genotyping analysis | 6 |
| nssv1154172 | copy number loss | 1780854334_A | SNP array | SNP genotyping analysis | 7 |
| nssv1154173 | copy number loss | 1780862197_A | SNP array | SNP genotyping analysis | 12 |
| nssv1154174 | copy number loss | 1780862274_A | SNP array | SNP genotyping analysis | 9 |
| nssv1154175 | copy number loss | 1780862431_A | SNP array | SNP genotyping analysis | nssv1150761, nssv1174148 |
| nssv1154176 | copy number gain | NINDS_236 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1065641 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,331,916 |
| nssv1065642 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,331,916 |
| nssv1065643 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,331,916 |
| nssv1065644 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,331,916 |
| nssv1065645 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,331,916 |
| nssv1065646 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,331,916 |
| nssv1065647 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,331,916 |
| nssv1065648 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,331,916 |
| nssv1154169 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,331,916 |
| nssv1154170 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,331,916 |
| nssv1154171 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,331,916 |
| nssv1154172 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,331,916 |
| nssv1154173 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,331,916 |
| nssv1154174 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,331,916 |
| nssv1154175 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,331,916 |
| nssv1154176 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833191 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,331,916 |
| nssv1065641 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,041,633 |
| nssv1065642 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,041,633 |
| nssv1065643 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,041,633 |
| nssv1065644 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,041,633 |
| nssv1065645 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,041,633 |
| nssv1065646 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,041,633 |
| nssv1065647 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,041,633 |
| nssv1065648 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,041,633 |
| nssv1154169 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,041,633 |
| nssv1154170 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,041,633 |
| nssv1154171 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,041,633 |
| nssv1154172 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,041,633 |
| nssv1154173 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,041,633 |
| nssv1154174 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,041,633 |
| nssv1154175 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,041,633 |
| nssv1154176 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904163 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,041,633 |
| nssv1065641 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,352 | ||
| nssv1065642 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,352 | ||
| nssv1065643 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,352 | ||
| nssv1065644 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,352 | ||
| nssv1065645 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,352 | ||
| nssv1065646 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,352 | ||
| nssv1065647 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,352 | ||
| nssv1065648 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,352 | ||
| nssv1154169 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,352 | ||
| nssv1154170 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,352 | ||
| nssv1154171 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,352 | ||
| nssv1154172 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,352 | ||
| nssv1154173 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,352 | ||
| nssv1154174 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,352 | ||
| nssv1154175 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,352 | ||
| nssv1154176 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909835 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,352 |