nsv4422843
- 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:657
- DGV: gssvL60040
- dbVar: essv4968792
- dbVar: essv6692536
- dbVar: essv6699442
- dbVar: essv6746821
- dbVar: essv6780592
- dbVar: essv6793019
- dbVar: essv6832358
- dbVar: essv6842342
- dbVar: essv6843638
- dbVar: essv6871544
- dbVar: essv6874524
- dbVar: essv6885818
- dbVar: essv6895639
- dbVar: essv6913751
- dbVar: essv6917209
- dbVar: essv6933049
- dbVar: essv6937413
- dbVar: essv6946225
- dbVar: essv6967586
- 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: 101 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 33 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4422843 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 57,241,377 | 57,241,417 | 57,241,861 | 57,242,033 |
nsv4422843 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 57,752,745 | 57,752,785 | 57,753,229 | 57,753,401 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15727364 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15727364 | Remapped | Perfect | NC_000019.10:g.(57 241377_57241417)_( 57241861_57242033) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,241,377 | 57,241,417 | 57,241,861 | 57,242,033 |
nssv15727364 | Submitted genomic | NC_000019.9:g.(577 52745_57752785)_(5 7753229_57753401)d el | GRCh37 (hg19) | NC_000019.9 | Chr19 | 57,752,745 | 57,752,785 | 57,753,229 | 57,753,401 |