A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978373



Internal ID18897896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:70361450..70372650hg38UCSC Ensembl
OuterchrX:69581300..69592500hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3811201
hg1911201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140037
Supporting Variants
SamplesKWS2
Known GenesKIF4A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978373
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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