nsv7148257
- 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:3,135,200
- Description:GRCh38/hg38 1q43-44(chr1:242164274-245299473)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: 8664 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 8665 SVs from 109 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148257 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 242,164,274 | 245,299,473 | ||
| nsv7148257 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 242,327,576 | 245,462,775 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841924 | 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 | RCV003327716.2, VCV002579277.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841924 | Submitted genomic | NC_000001.11:g.242 164274_245299473de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 242,164,274 | 245,299,473 | ||
| nssv18841924 | Remapped | Perfect | NC_000001.10:g.242 327576_245462775de l | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 242,327,576 | 245,462,775 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18841924 | GRCh38: NC_000001.11:g.242164274_245299473del | 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 | RCV003327716.2, VCV002579277.1 | 1 |