A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598251



Internal ID16385660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:58743814..58760381hg38UCSC Ensembl
Innerchr5:58039641..58056208hg19UCSC Ensembl
Innerchr5:58075398..58091965hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3816568
hg1916568
hg1816568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1033354
Samples
Known GenesRAB3C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598251
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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