nsv6634431
- 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:95,663,755
- Description:GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 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: 264915 SVs from 151 studies. See in: genome view
Overlapping variant regions from other studies: 264848 SVs from 151 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634431 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 18,679,708 | 114,343,462 |
| nsv6634431 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 19,253,848 | 115,108,937 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18326470 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002291540.3, VCV001710518.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18326470 | Remapped | Good | NC_000013.11:g.186 79708_114343462dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 18,679,708 | 114,343,462 |
| nssv18326470 | Submitted genomic | NC_000013.10:g.192 53848_115108937dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 19,253,848 | 115,108,937 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18326470 | GRCh37: NC_000013.10:g.19253848_115108937dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV002291540.3, VCV001710518.3 | 3 |