A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599369



Internal ID16386778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112083606..112110768hg38UCSC Ensembl
Innerchr5:111419303..111446465hg19UCSC Ensembl
Innerchr5:111447202..111474364hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3827163
hg1927163
hg1827163
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040265
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599369
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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