nsv6135696
- 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:56,790
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: 3100 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 3100 SVs from 94 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6135696 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 32,472,601 | 32,472,612 | 32,529,389 | 32,529,390 |
nsv6135696 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 32,440,378 | 32,440,389 | 32,497,166 | 32,497,167 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17683404 | duplication | SAMN20524661 | Sequencing | Paired-end mapping | 62 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17683404 | Remapped | Perfect | NC_000006.12:g.(32 472601_32472612)_( 32529389_32529390) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,472,601 | 32,472,612 | 32,529,389 | 32,529,390 |
nssv17683404 | Submitted genomic | NC_000006.11:g.(32 440378_32440389)_( 32497166_32497167) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 32,440,378 | 32,440,389 | 32,497,166 | 32,497,167 |