nsv6313554
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:99,231
- Description:GRCh37/hg19 2p16.3(chr2:51107112-51206342) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 599 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 599 SVs from 65 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6313554 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 50,879,974 | 50,979,204 |
nsv6313554 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 51,107,112 | 51,206,342 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17969218 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002052682.3, VCV001526663.3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17969218 | Remapped | Perfect | NC_000002.12:g.(?_ 50879974)_(5097920 4_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 50,879,974 | 50,979,204 |
nssv17969218 | Submitted genomic | NC_000002.11:g.(?_ 51107112)_(5120634 2_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 51,107,112 | 51,206,342 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17969218 | GRCh37: NC_000002.11:g.(?_51107112)_(51206342_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002052682.3, VCV001526663.3 |