A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599487



Internal ID16040210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:117396760..117436397hg38UCSC Ensembl
Innerchr5:116732456..116772093hg19UCSC Ensembl
Innerchr5:116760355..116799992hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3839638
hg1939638
hg1839638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040573
Samples
Known GenesLINC00992
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599487
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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