nsv4388480
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:27,534
- Publication(s):Zarrei 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: 218 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 218 SVs from 55 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4388480 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 50,818,135 | 50,845,668 |
| nsv4388480 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 51,321,391 | 51,348,924 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15702425 | copy number loss | 158445 | SNP array | Genotyping | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15702425 | Remapped | Perfect | NC_000019.10:g.(?_ 50818135)_(5084566 8_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 50,818,135 | 50,845,668 |
| nssv15702425 | Submitted genomic | NC_000019.9:g.(?_5 1321391)_(51348924 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 51,321,391 | 51,348,924 |