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nsv5673991

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:471,747

Genome View

Select assembly:
Overlapping variant regions from other studies: 975 SVs from 67 studies. See in: genome view    
Remapped(Score: Perfect):31,496,778-31,968,524Question Mark
Overlapping variant regions from other studies: 975 SVs from 67 studies. See in: genome view    
Submitted genomic31,514,895-31,986,641Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv5673991RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000023.11ChrX31,496,77831,968,524
nsv5673991Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX31,514,89531,986,641

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17172841deletionMultipleMultipleDuchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMDPathogenicClinVarRCV001384705.2, VCV001072085.2

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv17172841RemappedPerfectNC_000023.11:g.(?_
31496778)_(3196852
4_?)del
GRCh38.p12First PassNC_000023.11ChrX31,496,77831,968,524
nssv17172841Submitted genomicNC_000023.10:g.(?_
31514895)_(3198664
1_?)del
GRCh37 (hg19)NC_000023.10ChrX31,514,89531,986,641

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17172841GRCh37: NC_000023.10:g.(?_31514895)_(31986641_?)deldeletiongermlineDuchenne muscular dystrophy; Duchenne muscular dystrophy; Dystrophinopathies; MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMDPathogenicClinVarRCV001384705.2, VCV001072085.2

No genotype data were submitted for this variant

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