nsv4428461
- 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:160,644
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 945 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 945 SVs from 80 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4428461 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 47,747,204 | 47,747,204 | 47,907,847 | 47,907,847 |
| nsv4428461 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 48,250,461 | 48,250,461 | 48,411,104 | 48,411,104 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15710282 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15710282 | Remapped | Perfect | NC_000019.10:g.(47 747204_47747204)_( 47907847_47907847) dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 47,747,204 | 47,747,204 | 47,907,847 | 47,907,847 |
| nssv15710282 | Submitted genomic | NC_000019.9:g.(482 50461_48250461)_(4 8411104_48411104)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 48,250,461 | 48,250,461 | 48,411,104 | 48,411,104 |