nsv4682506
- 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:322,617
- Description:NC_000023.11:g.(?_31609621)_(31932237_?)del AND Duchenne muscular dystrophy
- Publication(s):Achermann et al. 2001, American Academy of Pediatrics Section on Cardiology and Cardiac Surgery et al. 2005, Birnkrant et al. 2007, Birnkrant et al. 2010, Birnkrant et al. 2018, Birnkrant et al. 2018, Birnkrant et al. 2018, Bushby et al. 2009, Bushby et al. 2009, Darras et al. 2000, Gloss et al. 2016, Moxley et al. 2005
- ClinVar: RCV001033633.1
- ClinVar: VCV000833176.1
- GeneReviews: NBK1119
- MONDO: 0010679
- MedGen: C0013264
- OMIM: 310200
- Orphanet: 98896
- PubMed: 15642897
- PubMed: 16322188
- PubMed: 18079231
- PubMed: 19945913
- PubMed: 19945914
- PubMed: 20301298
- PubMed: 20301604
- PubMed: 20597083
- PubMed: 26833937
- PubMed: 29395989
- PubMed: 29395990
- PubMed: 29398641
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 727 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 727 SVs from 51 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4682506 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 31,609,621 | 31,932,237 |
| nsv4682506 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 31,627,738 | 31,950,354 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16214567 | deletion | Multiple | Multiple | Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | Pathogenic | ClinVar | RCV001033633.1, VCV000833176.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16214567 | Remapped | Perfect | NC_000023.11:g.(?_ 31609621)_(3193223 7_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 31,609,621 | 31,932,237 |
| nssv16214567 | Submitted genomic | NC_000023.10:g.(?_ 31627738)_(3195035 4_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 31,627,738 | 31,950,354 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16214567 | GRCh37: NC_000023.10:g.(?_31627738)_(31950354_?)del | deletion | germline | Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | Pathogenic | ClinVar | RCV001033633.1, VCV000833176.1 |