nsv4370574
- 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:185,532
- 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: 577 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 577 SVs from 53 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4370574 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 12,136,937 | 12,322,468 |
| nsv4370574 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 12,247,752 | 12,433,282 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15625961 | copy number gain | 1-0405-001 | SNP array | Genotyping | 38 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15625961 | Remapped | Good | NC_000019.10:g.(?_ 12136937)_(1232246 8_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 12,136,937 | 12,322,468 |
| nssv15625961 | Submitted genomic | NC_000019.9:g.(?_1 2247752)_(12433282 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 12,247,752 | 12,433,282 |