nsv428123
- Organism: Homo sapiens
- Study:nstd8 (Perry et al. 2008b)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:549,416
- Publication(s):Perry et al. 2008
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: 1635 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1635 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 410 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv428123 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 106,140,234 | 106,689,649 |
| nsv428123 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 105,475,935 | 106,025,350 |
| nsv428123 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 105,503,834 | 106,053,249 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv450491 | copy number loss | HGDP00450 | BAC aCGH | Probe signal intensity | 88 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv450491 | Remapped | Perfect | NC_000005.10:g.(?_ 106140234)_(106689 649_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 106,140,234 | 106,689,649 |
| nssv450491 | Remapped | Perfect | NC_000005.9:g.(?_1 05475935)_(1060253 50_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 105,475,935 | 106,025,350 |
| nssv450491 | Submitted genomic | NC_000005.8:g.(?_1 05503834)_(1060532 49_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 105,503,834 | 106,053,249 |