nsv6135461
- 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:80,259
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: 564 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 564 SVs from 83 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6135461 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 73,818,947 | 73,818,947 | 73,899,205 | 73,899,205 |
nsv6135461 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 74,528,670 | 74,528,677 | 74,608,910 | 74,608,921 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17678458 | duplication | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17678458 | Remapped | Good | NC_000006.12:g.(73 818947_73818947)_( 73899205_73899205) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 73,818,947 | 73,818,947 | 73,899,205 | 73,899,205 |
nssv17678458 | Submitted genomic | NC_000006.11:g.(74 528670_74528677)_( 74608910_74608921) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 74,528,670 | 74,528,677 | 74,608,910 | 74,608,921 |