nsv4427452
- 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:195,262
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2029 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 2029 SVs from 88 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4427452 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 63,964,886 | 64,017,648 | 64,160,147 | 64,160,147 |
nsv4427452 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 62,596,239 | 62,649,001 | 62,791,500 | 62,791,500 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15730568 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15730568 | Remapped | Perfect | NC_000020.11:g.(63 964886_64017648)_( 64160147_64160147) del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 63,964,886 | 64,017,648 | 64,160,147 | 64,160,147 |
nssv15730568 | Submitted genomic | NC_000020.10:g.(62 596239_62649001)_( 62791500_62791500) del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 62,596,239 | 62,649,001 | 62,791,500 | 62,791,500 |