nsv4422177
- Organism: Homo sapiens
- Study:nstd174 (DGV Gold Standard)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,107
- DGV: gssvL73731
- dbVar: essv64787
- dbVar: nssv942041
- dbVar: nssv942043
- dbVar: nssv942044
- dbVar: nssv942045
- dbVar: nssv942046
- dbVar: nssv942047
- dbVar: nssv942048
- dbVar: nssv942049
- dbVar: nssv942050
- dbVar: nssv942052
- dbVar: nssv942053
- dbVar: nssv942054
- dbVar: nssv942055
- dbVar: nssv942059
- dbVar: nssv942080
- dbVar: nssv942085
- dbVar: nssv942105
- Overlapping Genes
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: 168 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 168 SVs from 31 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4422177 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 62,143,349 | 62,143,349 | 62,144,455 | 62,144,455 |
nsv4422177 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 60,718,405 | 60,718,405 | 60,719,511 | 60,719,511 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15730516 | copy number loss | Multiple | Multiple |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15730516 | Remapped | Perfect | NC_000020.11:g.(62 143349_62143349)_( 62144455_62144455) del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 62,143,349 | 62,143,349 | 62,144,455 | 62,144,455 |
nssv15730516 | Submitted genomic | NC_000020.10:g.(60 718405_60718405)_( 60719511_60719511) del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 60,718,405 | 60,718,405 | 60,719,511 | 60,719,511 |