A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597808



Internal ID16385217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34656632..34657292hg38UCSC Ensembl
Innerchr5:34656737..34657397hg19UCSC Ensembl
Innerchr5:34692494..34693154hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38661
hg19661
hg18661
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9720n54
Supporting Variantsnssv1028945, nssv1028944, nssv1028943
Samples
Known GenesRAI14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597808
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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