nsv964344
- Organism: Homo sapiens
- Study:nstd82 (Sudmant et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,227
- Publication(s):Sudmant et al. 2013
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: 330 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 330 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv964344 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 170,346,302 | 170,352,528 |
| nsv964344 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 171,267,453 | 171,273,679 |
| nsv964344 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 171,504,028 | 171,510,254 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv2762137 | deletion | HGDP01029 | Sequencing | Read depth | 1 | 17,182 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2762137 | Remapped | Perfect | NC_000004.12:g.(?_ 170346302)_(170352 528_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 170,346,302 | 170,352,528 |
| nssv2762137 | Remapped | Perfect | NC_000004.11:g.(?_ 171267453)_(171273 679_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 171,267,453 | 171,273,679 |
| nssv2762137 | Submitted genomic | NC_000004.10:g.(?_ 171504028)_(171510 254_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 171,504,028 | 171,510,254 |