nsv6290933
- 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:11,290,223
- Description:GRCh37/hg19 3p14.2-13(chr3:59332508-70686155)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 27074 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 27039 SVs from 127 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290933 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 59,346,782 | 70,637,004 |
| nsv6290933 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 59,332,508 | 70,686,155 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956097 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001829252.1, VCV001341307.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956097 | Remapped | Good | NC_000003.12:g.(?_ 59346782)_(7063700 4_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 59,346,782 | 70,637,004 |
| nssv17956097 | Submitted genomic | NC_000003.11:g.(?_ 59332508)_(7068615 5_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 59,332,508 | 70,686,155 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956097 | GRCh37: NC_000003.11:g.(?_59332508)_(70686155_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001829252.1, VCV001341307.1 | 1 |