nsv603896
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:67,766
- 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv603896 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,332,440 |
| nsv603896 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,042,157 |
| nsv603896 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 79,031,111 | 79,098,876 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1066693 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1066694 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1154986 | copy number gain | NINDS_242 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1066693 | Remapped | Perfect | NC_000006.12:g.(?_ 78264675)_(7833244 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,332,440 |
| nssv1066694 | Remapped | Perfect | NC_000006.12:g.(?_ 78264675)_(7833244 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,332,440 |
| nssv1154986 | Remapped | Perfect | NC_000006.12:g.(?_ 78264675)_(7833244 0_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,264,675 | 78,332,440 |
| nssv1066693 | Remapped | Perfect | NC_000006.11:g.(?_ 78974392)_(7904215 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,042,157 |
| nssv1066694 | Remapped | Perfect | NC_000006.11:g.(?_ 78974392)_(7904215 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,042,157 |
| nssv1154986 | Remapped | Perfect | NC_000006.11:g.(?_ 78974392)_(7904215 7_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,974,392 | 79,042,157 |
| nssv1066693 | Submitted genomic | NC_000006.10:g.(?_ 79031111)_(7909887 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,031,111 | 79,098,876 | ||
| nssv1066694 | Submitted genomic | NC_000006.10:g.(?_ 79031111)_(7909887 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,031,111 | 79,098,876 | ||
| nssv1154986 | Submitted genomic | NC_000006.10:g.(?_ 79031111)_(7909887 6_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,031,111 | 79,098,876 |