nsv6112778
- 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:11,102,165
- Description:GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)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: 40843 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 40754 SVs from 130 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6112778 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 53,183,109 | 64,285,273 |
| nsv6112778 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 51,799,648 | 62,916,626 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17649957 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001537917.4, VCV001180535.4 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17649957 | Remapped | Good | NC_000020.11:g.531 83109_64285273dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 53,183,109 | 64,285,273 |
| nssv17649957 | Submitted genomic | NC_000020.10:g.517 99648_62916626dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 51,799,648 | 62,916,626 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17649957 | GRCh37: NC_000020.10:g.51799648_62916626dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV001537917.4, VCV001180535.4 | 3 |