A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597807



Internal ID16385216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34656581..34657129hg38UCSC Ensembl
Innerchr5:34656686..34657234hg19UCSC Ensembl
Innerchr5:34692443..34692991hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38549
hg19549
hg18549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1028942
Samples
Known GenesRAI14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597807
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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