A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597532



Internal ID16038255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:22175105..22482482hg38UCSC Ensembl
Innerchr5:22175214..22482591hg19UCSC Ensembl
Innerchr5:22210971..22518348hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38307378
hg19307378
hg18307378
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1027489
Samples
Known GenesCDH12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597532
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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