nsv6315090
- 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:5,623,058
- Description:GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)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: 14034 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 14035 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315090 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 128,764,790 | 134,387,847 |
| nsv6315090 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 128,634,685 | 134,257,741 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976508 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002262373.5, VCV001694653.6 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976508 | Remapped | Perfect | NC_000011.10:g.(?_ 128764790)_(134387 847_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 128,764,790 | 134,387,847 |
| nssv17976508 | Submitted genomic | NC_000011.9:g.(?_1 28634685)_(1342577 41_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 128,634,685 | 134,257,741 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17976508 | GRCh37: NC_000011.9:g.(?_128634685)_(134257741_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV002262373.5, VCV001694653.6 | 1 |