nsv3887387
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:151,991
- Description:
See descriptions for individual calls in download files - 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: RCV000707911.1
- ClinVar: RCV000708094.4
- ClinVar: VCV000583624.1
- ClinVar: VCV000583835.5
- 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 | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3887387 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 32,697,850 | 32,849,840 |
| nsv3887387 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 32,715,967 | 32,867,957 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15154207 | duplication | Multiple | Multiple | Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | Likely pathogenic | ClinVar | RCV000707911.1, VCV000583624.1 |
| nssv15154228 | deletion | Multiple | Multiple | Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | Pathogenic | ClinVar | RCV000708094.4, VCV000583835.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15154207 | Submitted genomic | NC_000023.11:g.(?_ 32697850)_(3284984 0_?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 32,697,850 | 32,849,840 |
| nssv15154228 | Submitted genomic | NC_000023.11:g.(?_ 32697850)_(3284984 0_?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 32,697,850 | 32,849,840 |
| nssv15154207 | Submitted genomic | NC_000023.10:g.(?_ 32715967)_(3286795 7_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,715,967 | 32,867,957 |
| nssv15154228 | Submitted genomic | NC_000023.10:g.(?_ 32715967)_(3286795 7_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,715,967 | 32,867,957 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15154207 | GRCh37: NC_000023.10:g.(?_32715967)_(32867957_?)dup, GRCh38: NC_000023.11:g.(?_32697850)_(32849840_?)dup | duplication | germline | Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | Likely pathogenic | ClinVar | RCV000707911.1, VCV000583624.1 |
| nssv15154228 | GRCh37: NC_000023.10:g.(?_32715967)_(32867957_?)del, GRCh38: NC_000023.11:g.(?_32697850)_(32849840_?)del | deletion | germline | Duchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | Pathogenic | ClinVar | RCV000708094.4, VCV000583835.5 |