A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959008



Internal ID19219656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:94038734..94042534hg38UCSC Ensembl
Outerchr11:93771900..93775700hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg383801
hg193801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118499
Supporting Variants
SamplesKWS1
Known GenesHEPHL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959008
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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