A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598260



Internal ID16385669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60064514..60178388hg38UCSC Ensembl
Innerchr5:59360341..59474215hg19UCSC Ensembl
Innerchr5:59396098..59509972hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38113875
hg19113875
hg18113875
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153556
SamplesHGDP00045
Known GenesPDE4D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598260
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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