A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976864



Internal ID19232541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:113566923..113602123hg38UCSC Ensembl
Outerchr2:114324500..114359700hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3835201
hg1935201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124810
Supporting Variants
SamplesKWS2
Known GenesDDX11L2, FAM138B, WASH2P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976864
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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