nsv6314999
- 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:151,971
- Description:GRCh37/hg19 Xp21.1(chrX:32715977-32867947)x2 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: RCV002259561.1
- ClinVar: VCV001693118.1
- 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: 512 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 512 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 32,697,860 | 32,849,830 |
| nsv6314999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 32,715,977 | 32,867,947 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976472 | copy number gain | Multiple | Multiple | Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | Pathogenic | ClinVar | RCV002259561.1, VCV001693118.1 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976472 | Remapped | Perfect | NC_000023.11:g.326 97860_32849830dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,697,860 | 32,849,830 |
| nssv17976472 | Submitted genomic | NC_000023.10:g.327 15977_32867947dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,715,977 | 32,867,947 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17976472 | GRCh37: NC_000023.10:g.32715977_32867947dup | copy number gain | maternal | Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | Pathogenic | ClinVar | RCV002259561.1, VCV001693118.1 | 2 |