A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993192



Internal ID19230782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:73106261..73121961hg38UCSC Ensembl
OuterchrX:72326100..72341800hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3815701
hg1915701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141686
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993192
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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