A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020448



Internal ID19109667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21832471..21868316hg38UCSC Ensembl
Innerchr5:21832580..21868425hg19UCSC Ensembl
Innerchr5:21868337..21904182hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3835846
hg1935846
hg1835846
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3635940
Samples
Known GenesCDH12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020448
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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