nsv6137096
- 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:700,002
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: 1310 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1310 SVs from 73 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6137096 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 81,885,085 | 82,585,086 |
nsv6137096 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 84,500,000 | 85,200,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17678251 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv17678251 | Remapped | Perfect | NC_000009.12:g.818 85085_82585086dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 81,885,085 | 82,585,086 |
nssv17678251 | Submitted genomic | NC_000009.11:g.845 00000_85200001dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 84,500,000 | 85,200,001 |