A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064973



Internal ID19154192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:42043640..42131834hg38UCSC Ensembl
Innerchr18:39623604..39711798hg19UCSC Ensembl
Innerchr18:37877602..37965796hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3888195
hg1988195
hg1888195
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3342n100
Supporting Variantsnssv3565348
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)nsv1064973
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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