nsv7148177
- 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:66,613
- Description:GRCh38/hg38 Xp11.4(chrX:41786713-41853325)x0 AND Syndromic X-linked intellectual disability Najm type
- Publication(s):Moog et al. 2013
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 160 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148177 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 41,786,713 | 41,853,325 | ||
| nsv7148177 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 41,645,966 | 41,712,578 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841936 | copy number loss | Multiple | Multiple | CASK-Related Disorders; MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH; Mental retardation and microcephaly with pontine and cerebellar hypoplasia; See individual phenotypes in OMIM allelic variants; X-linked intellectual disability, Najm type | Pathogenic | ClinVar | RCV003327702.1, VCV002579263.1 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841936 | Submitted genomic | NC_000023.11:g.417 86713_41853325del | GRCh38 (hg38) | NC_000023.11 | ChrX | 41,786,713 | 41,853,325 | ||
| nssv18841936 | Remapped | Perfect | NC_000023.10:g.416 45966_41712578del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 41,645,966 | 41,712,578 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18841936 | GRCh38: NC_000023.11:g.41786713_41853325del | copy number loss | de novo | CASK-Related Disorders; MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH; Mental retardation and microcephaly with pontine and cerebellar hypoplasia; See individual phenotypes in OMIM allelic variants; X-linked intellectual disability, Najm type | Pathogenic | ClinVar | RCV003327702.1, VCV002579263.1 | 0 |