nsv6634408
- 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:8,103,584
- Description:GRCh37/hg19 10q26.13-26.3(chr10:127198625-135427143)x3 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: 31153 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 30812 SVs from 128 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634408 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 125,510,056 | 133,613,639 |
| nsv6634408 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 127,198,625 | 135,427,143 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18326361 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002292400.1, VCV001711099.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18326361 | Remapped | Good | NC_000010.11:g.(12 5510056_?)_(?_1336 13639)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 125,510,056 | 133,613,639 |
| nssv18326361 | Submitted genomic | NC_000010.10:g.(12 7198625_?)_(?_1354 27143)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 127,198,625 | 135,427,143 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18326361 | GRCh37: NC_000010.10:g.(127198625_?)_(?_135427143)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV002292400.1, VCV001711099.1 | 3 |