nsv6135806
- 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:160,002
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: 413 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 413 SVs from 40 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6135806 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 101,207,772 | 101,367,773 |
nsv6135806 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 102,220,000 | 102,380,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17677748 | copy number gain | SAMN20524657 | Sequencing | Paired-end mapping | 656 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17677748 | Remapped | Perfect | NC_000008.11:g.101 207772_101367773du p | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 101,207,772 | 101,367,773 |
nssv17677748 | Submitted genomic | NC_000008.10:g.102 220000_102380001du p | GRCh37 (hg19) | NC_000008.10 | Chr8 | 102,220,000 | 102,380,001 |