nsv6137252
- 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:450,002
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: 1875 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1875 SVs from 94 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6137252 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 136,387,757 | 136,837,758 |
| nsv6137252 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 137,400,000 | 137,850,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17678509 | copy number gain | SAMN20524665 | Sequencing | Paired-end mapping | 405 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17678509 | Remapped | Perfect | NC_000008.11:g.136 387757_136837758du p | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,387,757 | 136,837,758 |
| nssv17678509 | Submitted genomic | NC_000008.10:g.137 400000_137850001du p | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,400,000 | 137,850,001 |