nsv4425232
- 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:1,375
- DGV: gssvL75440
- dbVar: essv63571
- dbVar: nssv3000668
- dbVar: nssv946652
- dbVar: nssv946653
- dbVar: nssv946655
- dbVar: nssv946656
- dbVar: nssv946661
- dbVar: nssv946663
- dbVar: nssv946672
- dbVar: nssv946674
- dbVar: nssv946675
- dbVar: nssv946678
- dbVar: nssv946680
- dbVar: nssv946681
- dbVar: nssv946682
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 293 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 293 SVs from 30 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4425232 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 34,073,050 | 34,073,050 | 34,074,424 | 34,074,424 |
nsv4425232 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 35,445,350 | 35,445,350 | 35,446,724 | 35,446,724 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15730863 | copy number loss | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15730863 | Remapped | Perfect | NC_000021.9:g.(340 73050_34073050)_(3 4074424_34074424)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 34,073,050 | 34,073,050 | 34,074,424 | 34,074,424 |
nssv15730863 | Submitted genomic | NC_000021.8:g.(354 45350_35445350)_(3 5446724_35446724)d el | GRCh37 (hg19) | NC_000021.8 | Chr21 | 35,445,350 | 35,445,350 | 35,446,724 | 35,446,724 |