nsv6132928
- 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:1,502,487
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: 4067 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 4048 SVs from 90 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6132928 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 48,200,797 | 49,703,283 |
| nsv6132928 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 48,670,000 | 50,170,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17679067 | copy number gain | SAMN20524655 | Sequencing | Paired-end mapping | 909 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17679067 | Remapped | Good | NC_000014.9:g.4820 0797_49703283dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 48,200,797 | 49,703,283 |
| nssv17679067 | Submitted genomic | NC_000014.8:g.4867 0000_50170001dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 48,670,000 | 50,170,001 |