nsv3894877
- 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:7,901,553
- Description:GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 19899 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 19900 SVs from 116 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3894877 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 92,148,414 | 100,049,966 |
| nsv3894877 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 93,908,171 | 101,809,723 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15150787 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000512315.2, VCV000441822.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15150787 | Remapped | Perfect | NC_000010.11:g.(?_ 92148414)_(1000499 66_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 92,148,414 | 100,049,966 |
| nssv15150787 | Submitted genomic | NC_000010.10:g.(?_ 93908171)_(1018097 23_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 93,908,171 | 101,809,723 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15150787 | GRCh37: NC_000010.10:g.(?_93908171)_(101809723_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000512315.2, VCV000441822.2 | 1 |