nsv4395039
- 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:115,389
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 505 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 505 SVs from 59 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4395039 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 30,889,700 | 30,889,732 | 30,996,296 | 31,005,088 |
nsv4395039 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 30,857,477 | 30,857,509 | 30,964,073 | 30,972,865 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15712109 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15712109 | Remapped | Perfect | NC_000006.12:g.(30 889700_30889732)_( 30996296_31005088) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 30,889,700 | 30,889,732 | 30,996,296 | 31,005,088 |
nssv15712109 | Submitted genomic | NC_000006.11:g.(30 857477_30857509)_( 30964073_30972865) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 30,857,477 | 30,857,509 | 30,964,073 | 30,972,865 |