nsv6134005
- 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:134,593
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: 422 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 422 SVs from 60 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6134005 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 15,470,578 | 15,470,588 | 15,605,157 | 15,605,170 |
nsv6134005 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 15,451,223 | 15,451,233 | 15,585,802 | 15,585,815 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17679160 | deletion | SAMN20524659 | Sequencing | Paired-end mapping | 203 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17679160 | Remapped | Perfect | NC_000020.11:g.(15 470578_15470588)_( 15605157_15605170) del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 15,470,578 | 15,470,588 | 15,605,157 | 15,605,170 |
nssv17679160 | Submitted genomic | NC_000020.10:g.(15 451223_15451233)_( 15585802_15585815) del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 15,451,223 | 15,451,233 | 15,585,802 | 15,585,815 |