nsv6134216
- 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:4,847,454
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: 21181 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 21108 SVs from 118 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6134216 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 45,954,120 | 50,801,573 |
| nsv6134216 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 46,350,000 | 51,240,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17680795 | copy number loss | SAMN20524665 | Sequencing | Paired-end mapping | 405 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17680795 | Remapped | Good | NC_000022.11:g.459 54120_50801573del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 45,954,120 | 50,801,573 |
| nssv17680795 | Submitted genomic | NC_000022.10:g.463 50000_51240001del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 46,350,000 | 51,240,001 |