nsv913679
- Organism: Homo sapiens
- Study:nstd71 (Xu 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:146,623
- Publication(s):Xu 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: 758 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 758 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 283 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 | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv913679 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 31,446,439 | 31,454,528 | 31,585,452 | 31,593,061 |
| nsv913679 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 32,818,752 | 32,826,841 | 32,957,765 | 32,965,374 |
| nsv913679 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 31,740,623 | 31,748,712 | 31,879,636 | 31,887,245 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1549525 | copy number gain | MS18256 | SNP array | SNP genotyping analysis | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1549525 | Remapped | Perfect | NC_000021.9:g.(314 46439_31454528)_(3 1585452_31593061)d up | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 31,446,439 | 31,454,528 | 31,585,452 | 31,593,061 |
| nssv1549525 | Remapped | Perfect | NC_000021.8:g.(328 18752_32826841)_(3 2957765_32965374)d up | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 32,818,752 | 32,826,841 | 32,957,765 | 32,965,374 |
| nssv1549525 | Submitted genomic | NC_000021.7:g.(317 40623_31748712)_(3 1879636_31887245)d up | NCBI36 (hg18) | NC_000021.7 | Chr21 | 31,740,623 | 31,748,712 | 31,879,636 | 31,887,245 |