A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7590n54



Internal ID20141014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45709047..45749938hg38UCSC Ensembl
chr20:44337686..44378577hg19UCSC Ensembl
chr20:43771100..43811984hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3840892
hg1940892
hg1840885
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv586118, nsv586120, nsv586114, nsv586117, nsv586119
SamplesHGDP00522
Known GenesSPINT4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7590n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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