A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984053



Internal ID19240040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:77470878..77477276hg38UCSC Ensembl
Outerchr5:76766703..76773101hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg386399
hg196399
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125845
Supporting Variants
SamplesKWS2
Known GenesWDR41
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984053
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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