nsv7096354
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:157,062
- Description:NC_000022.10:g.(?_34000401)_(34157463_?)del AND Muscular dystrophy-dystroglycanopathy type B6
- Publication(s):Wang et al. 2010
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 551 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 555 SVs from 64 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7096354 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 33,604,415 | 33,761,476 |
| nsv7096354 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 34,000,401 | 34,157,463 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18789933 | deletion | Multiple | Multiple | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003113587.2, VCV002425218.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18789933 | Remapped | Good | NC_000022.11:g.(?_ 33604415)_(3376147 6_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 33,604,415 | 33,761,476 |
| nssv18789933 | Submitted genomic | NC_000022.10:g.(?_ 34000401)_(3415746 3_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 34,000,401 | 34,157,463 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18789933 | GRCh37: NC_000022.10:g.(?_34000401)_(34157463_?)del | deletion | germline | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003113587.2, VCV002425218.2 |