nsv4401812
- 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:332,643
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 785 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 882 SVs from 68 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4401812 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 60,737,125 | 60,737,125 | 60,991,614 | 61,069,767 |
nsv4401812 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 57,704,872 | 57,704,872 | 57,959,361 | 58,037,514 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15712199 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15712199 | Remapped | Perfect | NC_000006.12:g.(60 737125_60737125)_( 60991614_61069767) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 60,737,125 | 60,737,125 | 60,991,614 | 61,069,767 |
nssv15712199 | Submitted genomic | NC_000006.11:g.(57 704872_57704872)_( 57959361_58037514) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 57,704,872 | 57,704,872 | 57,959,361 | 58,037,514 |