nsv3565988
- Organism: Homo sapiens
- Study:nstd165 (Bhaskaran et al. 2019)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,631
- Publication(s):Bhaskaran et al. 2019
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: 313 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 311 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3565988 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 43,067,608 | 43,071,238 |
| nsv3565988 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 41,219,625 | 41,223,255 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14814889 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14814889 | Remapped | Perfect | NC_000017.11:g.430 67608_43071238del3 631 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 43,067,608 | 43,071,238 |
| nssv14814889 | Submitted genomic | NC_000017.10:g.412 19625_41223255del3 631 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 41,219,625 | 41,223,255 |