A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598749



Internal ID16386158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80960339..80960965hg38UCSC Ensembl
Innerchr5:80256158..80256784hg19UCSC Ensembl
Innerchr5:80291914..80292540hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38627
hg19627
hg18627
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035308
Samples
Known GenesLOC102524628, RASGRF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598749
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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