nsv6314748
- 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:33,216,355
- Description:GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3 AND 2q13q22.3 microduplication syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 82328 SVs from 146 studies. See in: genome view
Overlapping variant regions from other studies: 82488 SVs from 146 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314748 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 111,718,078 | 144,934,432 |
| nsv6314748 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 112,475,655 | 145,691,999 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976155 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002226436.2, VCV001679114.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976155 | Remapped | Perfect | NC_000002.12:g.(?_ 111718078)_(144934 432_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 111,718,078 | 144,934,432 |
| nssv17976155 | Submitted genomic | NC_000002.11:g.(?_ 112475655)_(145691 999_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 112,475,655 | 145,691,999 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17976155 | GRCh37: NC_000002.11:g.(?_112475655)_(145691999_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV002226436.2, VCV001679114.2 | 3 |