nsv4422729
- 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:339,064
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1439 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1439 SVs from 83 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4422729 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 2,650,623 | 2,673,153 | 2,978,352 | 2,989,686 |
nsv4422729 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 2,631,269 | 2,653,799 | 2,958,998 | 2,970,332 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15710780 | copy number gain | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15710780 | Remapped | Perfect | NC_000020.11:g.(26 50623_2673153)_(29 78352_2989686)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 2,650,623 | 2,673,153 | 2,978,352 | 2,989,686 |
nssv15710780 | Submitted genomic | NC_000020.10:g.(26 31269_2653799)_(29 58998_2970332)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 2,631,269 | 2,653,799 | 2,958,998 | 2,970,332 |