nsv574991
- 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:61,031
- 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: 254 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 252 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv574991 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 39,613,752 | 39,674,782 |
| nsv574991 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 37,770,005 | 37,831,035 |
| nsv574991 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 35,023,531 | 35,084,561 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1149704 | copy number loss | 1780862585_A | SNP array | SNP genotyping analysis | 12 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1149704 | Remapped | Perfect | NC_000017.11:g.(?_ 39613752)_(3967478 2_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 39,613,752 | 39,674,782 |
| nssv1149704 | Remapped | Perfect | NC_000017.10:g.(?_ 37770005)_(3783103 5_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 37,770,005 | 37,831,035 |
| nssv1149704 | Submitted genomic | NC_000017.9:g.(?_3 5023531)_(35084561 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 35,023,531 | 35,084,561 |