A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993810



Internal ID18884571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:54480910..54480991hg38UCSC Ensembl
Outerchr20:53097449..53097530hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142310
Supporting Variants
SamplesKWS2
Known GenesDOK5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993810
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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