nsv7137120
- 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:898,586
- Description:GRCh37/hg19 15q25.2-25.3(chr15:84908070-85681134) AND WDR73-related disorders
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2426 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 2363 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7137120 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 84,239,318 | 85,137,903 |
| nsv7137120 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 84,908,070 | 85,681,134 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18830801 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV003236739.1, VCV002506555.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18830801 | Remapped | Pass | NC_000015.10:g.(?_ 84239318)_(8513790 3_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 84,239,318 | 85,137,903 |
| nssv18830801 | Submitted genomic | NC_000015.9:g.(?_8 4908070)_(85681134 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 84,908,070 | 85,681,134 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18830801 | GRCh37: NC_000015.9:g.(?_84908070)_(85681134_?)del | copy number loss | germline | See cases | Pathogenic | ClinVar | RCV003236739.1, VCV002506555.1 |