U.S. flag

An official website of the United States government

nsv3875878

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:358,931

Genome View

Select assembly:
Overlapping variant regions from other studies: 703 SVs from 50 studies. See in: genome view    
Submitted genomic31,609,584-31,968,514Question Mark
Overlapping variant regions from other studies: 703 SVs from 50 studies. See in: genome view    
Submitted genomic31,627,701-31,986,631Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3875878Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000023.11ChrX31,609,58431,968,514
nsv3875878Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX31,627,70131,986,631

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv15154837deletionMultipleMultipleDuchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMDPathogenicClinVarRCV000708093.1, VCV000583834.1

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15154837Submitted genomicNC_000023.11:g.(?_
31609584)_(3196851
4_?)del
GRCh38 (hg38)NC_000023.11ChrX31,609,58431,968,514
nssv15154837Submitted genomicNC_000023.10:g.(?_
31627701)_(3198663
1_?)del
GRCh37 (hg19)NC_000023.10ChrX31,627,70131,986,631

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv15154837GRCh37: NC_000023.10:g.(?_31627701)_(31986631_?)del, GRCh38: NC_000023.11:g.(?_31609584)_(31968514_?)deldeletiongermlineDuchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMDPathogenicClinVarRCV000708093.1, VCV000583834.1

No genotype data were submitted for this variant

Support Center