A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2264n106



Internal ID20161621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54480910..54480993hg38UCSC Ensembl
chr20:53097449..53097532hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1129662, nsv1142310
SamplesKWS2, KWS1
Known GenesDOK5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2264n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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