nsv6136639
- 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:240,002
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: 836 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 836 SVs from 68 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6136639 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 111,497,720 | 111,737,721 |
nsv6136639 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 114,260,000 | 114,500,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17679687 | copy number gain | SAMN20524663 | Sequencing | Paired-end mapping | 244 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17679687 | Remapped | Perfect | NC_000009.12:g.111 497720_111737721du p | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 111,497,720 | 111,737,721 |
nssv17679687 | Submitted genomic | NC_000009.11:g.114 260000_114500001du p | GRCh37 (hg19) | NC_000009.11 | Chr9 | 114,260,000 | 114,500,001 |