A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1027491



Internal ID16321447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:22714405..23002880hg38UCSC Ensembl
Innerchr5:22714514..23002989hg19UCSC Ensembl
Innerchr5:22750271..23038746hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38288476
hg19288476
hg18288476
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv597535
Supporting Variants
Samples
Known GenesCDH12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1027491
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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