nsv6132571
- 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:305,045
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: 1189 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1240 SVs from 80 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6132571 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 89,642,703 | 89,947,747 |
| nsv6132571 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 90,270,000 | 90,600,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17678169 | copy number gain | SAMN20524660 | Sequencing | Paired-end mapping | 208 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17678169 | Remapped | Pass | NC_000013.11:g.896 42703_89947747dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 89,642,703 | 89,947,747 |
| nssv17678169 | Submitted genomic | NC_000013.10:g.902 70000_90600001dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 90,270,000 | 90,600,001 |