nsv6136682
- 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:610,002
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: 1784 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1784 SVs from 89 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6136682 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 46,338,378 | 46,948,379 |
| nsv6136682 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 47,250,000 | 47,860,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17679020 | copy number loss | SAMN20524662 | Sequencing | Paired-end mapping | 1,603 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17679020 | Remapped | Perfect | NC_000008.11:g.463 38378_46948379del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 46,338,378 | 46,948,379 |
| nssv17679020 | Submitted genomic | NC_000008.10:g.472 50000_47860001del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 47,250,000 | 47,860,001 |