A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597424



Internal ID16038147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:19381946..19751051hg38UCSC Ensembl
Innerchr5:19382055..19751160hg19UCSC Ensembl
Innerchr5:19417812..19786917hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38369106
hg19369106
hg18369106
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1026832
Samples
Known GenesCDH18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597424
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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