nsv6136021
- 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:397,271
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: 2066 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1941 SVs from 88 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6136021 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 143,837,828 | 144,235,098 |
| nsv6136021 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 144,920,000 | 145,290,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17681102 | copy number gain | SAMN20524664 | Sequencing | Paired-end mapping | 739 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17681102 | Remapped | Pass | NC_000008.11:g.143 837828_144235098du p | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 143,837,828 | 144,235,098 |
| nssv17681102 | Submitted genomic | NC_000008.10:g.144 920000_145290001du p | GRCh37 (hg19) | NC_000008.10 | Chr8 | 144,920,000 | 145,290,001 |