nsv6132569
- 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:24,359,910
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: 65566 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 65573 SVs from 132 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6132569 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 87,147,745 | 111,507,654 |
nsv6132569 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 87,800,000 | 112,160,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17677416 | copy number loss | SAMN20524656 | Sequencing | Paired-end mapping | 419 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17677416 | Remapped | Perfect | NC_000013.11:g.871 47745_111507654del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 87,147,745 | 111,507,654 |
nssv17677416 | Submitted genomic | NC_000013.10:g.878 00000_112160001del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 87,800,000 | 112,160,001 |