A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978453



Internal ID19230575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:112502072..112508272hg38UCSC Ensembl
OuterchrX:111745300..111751500hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg386201
hg196201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115890
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978453
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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