nsv603895
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:67,242
- 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: 2391 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2391 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1061 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 |
---|---|---|---|---|---|---|---|---|---|
nsv603895 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,331,916 |
nsv603895 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,041,633 |
nsv603895 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 79,031,111 | 79,098,352 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv1066681 | copy number loss | SNP array | SNP genotyping analysis | ||
nssv1066682 | copy number loss | SNP array | SNP genotyping analysis | ||
nssv1066683 | copy number gain | SNP array | SNP genotyping analysis | ||
nssv1066684 | copy number gain | SNP array | SNP genotyping analysis | ||
nssv1066685 | copy number loss | SNP array | SNP genotyping analysis | ||
nssv1066686 | copy number loss | SNP array | SNP genotyping analysis | ||
nssv1066687 | copy number loss | SNP array | SNP genotyping analysis | ||
nssv1066688 | copy number loss | SNP array | SNP genotyping analysis | ||
nssv1066689 | copy number loss | SNP array | SNP genotyping analysis | ||
nssv1066690 | copy number loss | SNP array | SNP genotyping analysis | ||
nssv1066691 | copy number loss | SNP array | SNP genotyping analysis | ||
nssv1066692 | copy number loss | SNP array | SNP genotyping analysis | ||
nssv1154983 | copy number loss | HGDP00033 | SNP array | SNP genotyping analysis | 9 |
nssv1154984 | copy number loss | HGDP00154 | SNP array | SNP genotyping analysis | 7 |
nssv1154985 | copy number gain | NINDS_89 | SNP array | SNP genotyping analysis | 10 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1066681 | Remapped | Perfect | NC_000006.12:g.(?_ 78264675)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,331,916 |
nssv1066682 | Remapped | Perfect | NC_000006.12:g.(?_ 78264675)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,331,916 |
nssv1066683 | Remapped | Perfect | NC_000006.12:g.(?_ 78264675)_(7833191 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,331,916 |
nssv1066684 | Remapped | Perfect | NC_000006.12:g.(?_ 78264675)_(7833191 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,331,916 |
nssv1066685 | Remapped | Perfect | NC_000006.12:g.(?_ 78264675)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,331,916 |
nssv1066686 | Remapped | Perfect | NC_000006.12:g.(?_ 78264675)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,331,916 |
nssv1066687 | Remapped | Perfect | NC_000006.12:g.(?_ 78264675)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,331,916 |
nssv1066688 | Remapped | Perfect | NC_000006.12:g.(?_ 78264675)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,331,916 |
nssv1066689 | Remapped | Perfect | NC_000006.12:g.(?_ 78264675)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,331,916 |
nssv1066690 | Remapped | Perfect | NC_000006.12:g.(?_ 78264675)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,331,916 |
nssv1066691 | Remapped | Perfect | NC_000006.12:g.(?_ 78264675)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,331,916 |
nssv1066692 | Remapped | Perfect | NC_000006.12:g.(?_ 78264675)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,331,916 |
nssv1154983 | Remapped | Perfect | NC_000006.12:g.(?_ 78264675)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,331,916 |
nssv1154984 | Remapped | Perfect | NC_000006.12:g.(?_ 78264675)_(7833191 6_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,331,916 |
nssv1154985 | Remapped | Perfect | NC_000006.12:g.(?_ 78264675)_(7833191 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,331,916 |
nssv1066681 | Remapped | Perfect | NC_000006.11:g.(?_ 78974392)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,041,633 |
nssv1066682 | Remapped | Perfect | NC_000006.11:g.(?_ 78974392)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,041,633 |
nssv1066683 | Remapped | Perfect | NC_000006.11:g.(?_ 78974392)_(7904163 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,041,633 |
nssv1066684 | Remapped | Perfect | NC_000006.11:g.(?_ 78974392)_(7904163 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,041,633 |
nssv1066685 | Remapped | Perfect | NC_000006.11:g.(?_ 78974392)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,041,633 |
nssv1066686 | Remapped | Perfect | NC_000006.11:g.(?_ 78974392)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,041,633 |
nssv1066687 | Remapped | Perfect | NC_000006.11:g.(?_ 78974392)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,041,633 |
nssv1066688 | Remapped | Perfect | NC_000006.11:g.(?_ 78974392)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,041,633 |
nssv1066689 | Remapped | Perfect | NC_000006.11:g.(?_ 78974392)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,041,633 |
nssv1066690 | Remapped | Perfect | NC_000006.11:g.(?_ 78974392)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,041,633 |
nssv1066691 | Remapped | Perfect | NC_000006.11:g.(?_ 78974392)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,041,633 |
nssv1066692 | Remapped | Perfect | NC_000006.11:g.(?_ 78974392)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,041,633 |
nssv1154983 | Remapped | Perfect | NC_000006.11:g.(?_ 78974392)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,041,633 |
nssv1154984 | Remapped | Perfect | NC_000006.11:g.(?_ 78974392)_(7904163 3_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,041,633 |
nssv1154985 | Remapped | Perfect | NC_000006.11:g.(?_ 78974392)_(7904163 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,041,633 |
nssv1066681 | Submitted genomic | NC_000006.10:g.(?_ 79031111)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,031,111 | 79,098,352 | ||
nssv1066682 | Submitted genomic | NC_000006.10:g.(?_ 79031111)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,031,111 | 79,098,352 | ||
nssv1066683 | Submitted genomic | NC_000006.10:g.(?_ 79031111)_(7909835 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,031,111 | 79,098,352 | ||
nssv1066684 | Submitted genomic | NC_000006.10:g.(?_ 79031111)_(7909835 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,031,111 | 79,098,352 | ||
nssv1066685 | Submitted genomic | NC_000006.10:g.(?_ 79031111)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,031,111 | 79,098,352 | ||
nssv1066686 | Submitted genomic | NC_000006.10:g.(?_ 79031111)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,031,111 | 79,098,352 | ||
nssv1066687 | Submitted genomic | NC_000006.10:g.(?_ 79031111)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,031,111 | 79,098,352 | ||
nssv1066688 | Submitted genomic | NC_000006.10:g.(?_ 79031111)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,031,111 | 79,098,352 | ||
nssv1066689 | Submitted genomic | NC_000006.10:g.(?_ 79031111)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,031,111 | 79,098,352 | ||
nssv1066690 | Submitted genomic | NC_000006.10:g.(?_ 79031111)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,031,111 | 79,098,352 | ||
nssv1066691 | Submitted genomic | NC_000006.10:g.(?_ 79031111)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,031,111 | 79,098,352 | ||
nssv1066692 | Submitted genomic | NC_000006.10:g.(?_ 79031111)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,031,111 | 79,098,352 | ||
nssv1154983 | Submitted genomic | NC_000006.10:g.(?_ 79031111)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,031,111 | 79,098,352 | ||
nssv1154984 | Submitted genomic | NC_000006.10:g.(?_ 79031111)_(7909835 2_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,031,111 | 79,098,352 | ||
nssv1154985 | Submitted genomic | NC_000006.10:g.(?_ 79031111)_(7909835 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,031,111 | 79,098,352 |