nsv4400054
- 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:372,659
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 972 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 972 SVs from 75 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4400054 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 99,829,964 | 99,830,136 | 100,198,076 | 100,202,622 |
| nsv4400054 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 100,277,840 | 100,278,012 | 100,645,952 | 100,650,498 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15712272 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15712272 | Remapped | Perfect | NC_000006.12:g.(99 829964_99830136)_( 100198076_10020262 2)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 99,829,964 | 99,830,136 | 100,198,076 | 100,202,622 |
| nssv15712272 | Submitted genomic | NC_000006.11:g.(10 0277840_100278012) _(100645952_100650 498)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 100,277,840 | 100,278,012 | 100,645,952 | 100,650,498 |