A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3565344



Internal ID18863625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:42039712..42131834hg38UCSC Ensembl
Innerchr18:39619676..39711798hg19UCSC Ensembl
Innerchr18:37873674..37965796hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3892123
hg1992123
hg1892123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1065792
Supporting Variants
Samples
Known GenesPIK3C3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3565344
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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