nsv4428747
- 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:54,923
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 248 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 248 SVs from 57 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4428747 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 55,695,650 | 55,711,493 | 55,750,393 | 55,750,572 |
| nsv4428747 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 55,729,562 | 55,745,405 | 55,784,305 | 55,784,484 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15709652 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15709652 | Remapped | Perfect | NC_000016.10:g.(55 695650_55711493)_( 55750393_55750572) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 55,695,650 | 55,711,493 | 55,750,393 | 55,750,572 |
| nssv15709652 | Submitted genomic | NC_000016.9:g.(557 29562_55745405)_(5 5784305_55784484)d up | GRCh37 (hg19) | NC_000016.9 | Chr16 | 55,729,562 | 55,745,405 | 55,784,305 | 55,784,484 |