nsv3170354
- Organism: Homo sapiens
- Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:41,030
- Description:CTNNB1
- Publication(s):Kharbanda et al. 2016, Kuechler et al. 2014, Riggs et al. 2011, de Ligt et al. 2012
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 107 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3170354 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 41,199,424 | 41,240,453 |
| nsv3170354 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 41,240,915 | 41,281,944 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv14252552 | copy number loss | Curated | Curated | MENTAL RETARDATION, AUTOSOMAL DOMINANT 19; MRD19 | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14252552 | Remapped | Perfect | NC_000003.12:g.(?_ 41199424)_(4124045 3_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,199,424 | 41,240,453 |
| nssv14252552 | Submitted genomic | NC_000003.11:g.(?_ 41240915)_(4128194 4_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 41,240,915 | 41,281,944 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv14252552 | GRCh37: NC_000003.11:g.(?_41240915)_(41281944_?)del | copy number loss | MENTAL RETARDATION, AUTOSOMAL DOMINANT 19; MRD19 | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |