nsv3908115
- 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:6,302,504
- Description:GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384) 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: 15582 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 15583 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3908115 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 90,908,124 | 97,210,627 |
| nsv3908115 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 92,667,881 | 98,970,384 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969418 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002052882.3, VCV001527596.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969418 | Remapped | Perfect | NC_000010.11:g.(?_ 90908124)_(9721062 7_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 90,908,124 | 97,210,627 |
| nssv17969418 | Submitted genomic | NC_000010.10:g.(?_ 92667881)_(9897038 4_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 92,667,881 | 98,970,384 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969418 | GRCh37: NC_000010.10:g.(?_92667881)_(98970384_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002052882.3, VCV001527596.3 |