A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598785



Internal ID16386194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:83544440..83575727hg38UCSC Ensembl
Innerchr5:82840259..82871546hg19UCSC Ensembl
Innerchr5:82876015..82907302hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3831288
hg1931288
hg1831288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153950
Samples1780854464_A
Known GenesVCAN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598785
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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