A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976879



Internal ID19232632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239280604..239283704hg38UCSC Ensembl
Outerchr2:240202300..240205400hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383101
hg193101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124825
Supporting Variants
SamplesKWS2
Known GenesHDAC4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976879
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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