A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057988



Internal ID19147207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:42038289..42133940hg38UCSC Ensembl
Innerchr18:39618253..39713904hg19UCSC Ensembl
Innerchr18:37872251..37967902hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3895652
hg1995652
hg1895652
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3342n100
Supporting Variantsnssv3565343
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)nsv1057988
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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