nsv4729284
- 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:2,601,842
- Description:GRCh37/hg19 15q25.2-25.3(chr15:83201955-85786847)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: 6281 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 6570 SVs from 115 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729284 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 82,641,775 | 85,243,616 |
| nsv4729284 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 83,201,955 | 85,786,847 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255524 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001259716.1, VCV000980540.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255524 | Remapped | Good | NC_000015.10:g.(?_ 82641775)_(8524361 6_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 82,641,775 | 85,243,616 |
| nssv16255524 | Submitted genomic | NC_000015.9:g.(?_8 3201955)_(85786847 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 83,201,955 | 85,786,847 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255524 | GRCh37: NC_000015.9:g.(?_83201955)_(85786847_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001259716.1, VCV000980540.1 | 1 |