nsv6137419
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,140,051
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: 3500 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 3508 SVs from 47 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6137419 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 12,698,071 | 17,838,121 |
nsv6137419 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 14,810,000 | 19,950,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17679531 | copy number loss | SAMN20524656 | Sequencing | Paired-end mapping | 419 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17679531 | Remapped | Good | NC_000024.10:g.126 98071_17838121del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 12,698,071 | 17,838,121 |
nssv17679531 | Submitted genomic | NC_000024.9:g.1481 0000_19950001del | GRCh37 (hg19) | NC_000024.9 | ChrY | 14,810,000 | 19,950,001 |