A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593502



Internal ID16380911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6576760..6611525hg38UCSC Ensembl
Innerchr4:6578487..6613252hg19UCSC Ensembl
Innerchr4:6629388..6664153hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3834766
hg1934766
hg1834766
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152597
SamplesHGDP00546
Known GenesMAN2B2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593502
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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