A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3962471



Internal ID19206486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239346993..239347078hg38UCSC Ensembl
Outerchr2:240268688..240268773hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1111208
Supporting Variants
SamplesKWS1
Known GenesHDAC4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3962471
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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