A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993891



Internal ID18890947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8233683..8233745hg38UCSC Ensembl
Outerchr4:8235410..8235472hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142384
Supporting Variants
SamplesKWS2
Known GenesSH3TC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993891
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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