nsv7148158
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:11,790,413
- Description:GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1 AND Intellectual disability, autosomal dominant 22
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 36876 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 36884 SVs from 131 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148158 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 235,215,476 | 247,005,888 | ||
| nsv7148158 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 235,378,791 | 247,169,190 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841919 | copy number loss | Multiple | Multiple | Intellectual disability, autosomal dominant 22; MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003327725.2, VCV002579286.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841919 | Submitted genomic | NC_000001.11:g.235 215476_247005888de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 235,215,476 | 247,005,888 | ||
| nssv18841919 | Remapped | Perfect | NC_000001.10:g.235 378791_247169190de l | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 235,378,791 | 247,169,190 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18841919 | GRCh38: NC_000001.11:g.235215476_247005888del | copy number loss | de novo | Intellectual disability, autosomal dominant 22; MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003327725.2, VCV002579286.1 | 1 |