nsv6315474
- 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:18,112,864
- Description:GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)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: 47532 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 47731 SVs from 139 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6315474 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 43,586,336 | 43,586,336 | 61,699,199 | 61,699,199 |
| nsv6315474 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 43,607,886 | 51,581,311 | 54,891,247 | 61,466,671 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976823 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002286338.1, VCV001707422.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17976823 | Remapped | Good | NC_000011.10:g.(43 586336_43586336)_( 61699199_61699199) dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 43,586,336 | 43,586,336 | 61,699,199 | 61,699,199 |
| nssv17976823 | Submitted genomic | NC_000011.9:g.(436 07886_51581311)_(5 4891247_61466671)d up | GRCh37 (hg19) | NC_000011.9 | Chr11 | 43,607,886 | 51,581,311 | 54,891,247 | 61,466,671 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17976823 | GRCh37: NC_000011.9:g.(43607886_51581311)_(54891247_61466671)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV002286338.1, VCV001707422.1 | 3 |