A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598786



Internal ID16386195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:84011755..84067293hg38UCSC Ensembl
Innerchr5:83307574..83363112hg19UCSC Ensembl
Innerchr5:83343330..83398868hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3855539
hg1955539
hg1855539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035430
Samples
Known GenesEDIL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598786
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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