A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976698



Internal ID18898400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:74758855..74762355hg38UCSC Ensembl
Outerchr11:74469900..74473400hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg383501
hg193501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124643
Supporting Variants
SamplesKWS2
Known GenesRNF169
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976698
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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