nsv4367991
- 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:51,257
- 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: 269 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 269 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4367991 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 24,196,192 | 24,247,448 |
| nsv4367991 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 24,378,994 | 24,430,250 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15637433 | copy number loss | 13-0095-002 | SNP array | Genotyping | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15637433 | Remapped | Perfect | NC_000019.10:g.(?_ 24196192)_(2424744 8_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 24,196,192 | 24,247,448 |
| nssv15637433 | Submitted genomic | NC_000019.9:g.(?_2 4378994)_(24430250 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 24,378,994 | 24,430,250 |