nsv612952
- 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:2,604
- 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: 470 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 469 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 217 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv612952 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 144,492,696 | 144,495,299 |
| nsv612952 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 145,718,079 | 145,720,682 |
| nsv612952 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 145,688,887 | 145,691,490 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1125811 | copy number loss | SNP array | SNP genotyping analysis |
| nssv1125812 | copy number loss | SNP array | SNP genotyping analysis |
| nssv1125813 | copy number loss | SNP array | SNP genotyping analysis |
| nssv1125814 | copy number loss | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1125811 | Remapped | Perfect | NC_000008.11:g.(?_ 144492696)_(144495 299_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 144,492,696 | 144,495,299 |
| nssv1125812 | Remapped | Perfect | NC_000008.11:g.(?_ 144492696)_(144495 299_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 144,492,696 | 144,495,299 |
| nssv1125813 | Remapped | Perfect | NC_000008.11:g.(?_ 144492696)_(144495 299_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 144,492,696 | 144,495,299 |
| nssv1125814 | Remapped | Perfect | NC_000008.11:g.(?_ 144492696)_(144495 299_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 144,492,696 | 144,495,299 |
| nssv1125811 | Remapped | Perfect | NC_000008.10:g.(?_ 145718079)_(145720 682_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 145,718,079 | 145,720,682 |
| nssv1125812 | Remapped | Perfect | NC_000008.10:g.(?_ 145718079)_(145720 682_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 145,718,079 | 145,720,682 |
| nssv1125813 | Remapped | Perfect | NC_000008.10:g.(?_ 145718079)_(145720 682_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 145,718,079 | 145,720,682 |
| nssv1125814 | Remapped | Perfect | NC_000008.10:g.(?_ 145718079)_(145720 682_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 145,718,079 | 145,720,682 |
| nssv1125811 | Submitted genomic | NC_000008.9:g.(?_1 45688887)_(1456914 90_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 145,688,887 | 145,691,490 | ||
| nssv1125812 | Submitted genomic | NC_000008.9:g.(?_1 45688887)_(1456914 90_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 145,688,887 | 145,691,490 | ||
| nssv1125813 | Submitted genomic | NC_000008.9:g.(?_1 45688887)_(1456914 90_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 145,688,887 | 145,691,490 | ||
| nssv1125814 | Submitted genomic | NC_000008.9:g.(?_1 45688887)_(1456914 90_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 145,688,887 | 145,691,490 |