A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599432



Internal ID16386841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:114150480..114226069hg38UCSC Ensembl
Innerchr5:113486177..113561766hg19UCSC Ensembl
Innerchr5:113514076..113589665hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3875590
hg1975590
hg1875590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040455
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599432
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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