nsv7093295
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:50
- Description:NM_006950.3(SYN1):c.980+43_981del AND Intellectual disability, X-linked 50
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 116 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 116 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7093295 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 47,576,406 | 47,576,455 |
| nsv7093295 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 47,435,805 | 47,435,854 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786280 | deletion | Multiple | Multiple | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50; XLID50; Intellectual disability, X-linked 50; See individual phenotypes in OMIM allelic variants; X linked non syndromic intellectual disability | Pathogenic | ClinVar | RCV002508167.1, VCV001700043.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786280 | Submitted genomic | NC_000023.11:g.475 76406_47576455del | GRCh38 (hg38) | NC_000023.11 | ChrX | 47,576,406 | 47,576,455 |
| nssv18786280 | Submitted genomic | NC_000023.10:g.474 35805_47435854del | GRCh37 (hg19) | NC_000023.10 | ChrX | 47,435,805 | 47,435,854 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786280 | GRCh37: NC_000023.10:g.47435805_47435854del, GRCh38: NC_000023.11:g.47576406_47576455del | deletion | paternal | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50; XLID50; Intellectual disability, X-linked 50; See individual phenotypes in OMIM allelic variants; X linked non syndromic intellectual disability | Pathogenic | ClinVar | RCV002508167.1, VCV001700043.1 |