A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2293n106



Internal ID20161650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63731348..63731622hg38UCSC Ensembl
chr20:62362700..62362974hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1125731, nsv1133304
SamplesKWS1, KWS2
Known GenesZGPAT
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2293n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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