A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1324n106



Internal ID20160681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23875507..23875570hg38UCSC Ensembl
chr16:23886828..23886891hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1125616, nsv1133223
SamplesKWS1, KWS2
Known GenesPRKCB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1324n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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