nsv587411
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:723
- 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: 255 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 255 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 170 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv587411 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 34,073,143 | 34,073,865 |
| nsv587411 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 35,445,443 | 35,446,165 |
| nsv587411 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 34,367,313 | 34,368,035 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv946672 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv946672 | Remapped | Perfect | NC_000021.9:g.(?_3 4073143)_(34073865 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 34,073,143 | 34,073,865 |
| nssv946672 | Remapped | Perfect | NC_000021.8:g.(?_3 5445443)_(35446165 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 35,445,443 | 35,446,165 |
| nssv946672 | Submitted genomic | NC_000021.7:g.(?_3 4367313)_(34368035 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 34,367,313 | 34,368,035 |