A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597803



Internal ID16385212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34656320..34657129hg38UCSC Ensembl
Innerchr5:34656425..34657234hg19UCSC Ensembl
Innerchr5:34692182..34692991hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38810
hg19810
hg18810
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9717n54
Supporting Variantsnssv1028935, nssv1028937, nssv1028936
Samples
Known GenesRAI14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597803
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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