nsv6134004
- 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:153,145
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: 1264 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1264 SVs from 76 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6134004 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 15,049,839 | 15,049,842 | 15,202,978 | 15,202,983 |
nsv6134004 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 15,030,485 | 15,030,488 | 15,183,624 | 15,183,629 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17682176 | deletion | SAMN20524662 | Sequencing | Paired-end mapping | 1,603 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17682176 | Remapped | Perfect | NC_000020.11:g.(15 049839_15049842)_( 15202978_15202983) del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 15,049,839 | 15,049,842 | 15,202,978 | 15,202,983 |
nssv17682176 | Submitted genomic | NC_000020.10:g.(15 030485_15030488)_( 15183624_15183629) del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 15,030,485 | 15,030,488 | 15,183,624 | 15,183,629 |