A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142310



Internal ID19287164
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 StatusM
Merged Variantsdgv2264n106
Supporting Variantsnssv3993810
SamplesKWS2
Known GenesDOK5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142310
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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