nsv6134762
- 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:90,257
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: 441 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 441 SVs from 55 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6134762 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 116,778,370 | 116,778,382 | 116,868,611 | 116,868,626 |
nsv6134762 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 116,497,217 | 116,497,229 | 116,587,458 | 116,587,473 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17681958 | deletion | SAMN20524657 | Sequencing | Paired-end mapping | 656 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17681958 | Remapped | Perfect | NC_000003.12:g.(11 6778370_116778382) _(116868611_116868 626)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 116,778,370 | 116,778,382 | 116,868,611 | 116,868,626 |
nssv17681958 | Submitted genomic | NC_000003.11:g.(11 6497217_116497229) _(116587458_116587 473)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 116,497,217 | 116,497,229 | 116,587,458 | 116,587,473 |