A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3330n100



Internal ID20154946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32687193..32726118hg38UCSC Ensembl
chr18:30267156..30306081hg19UCSC Ensembl
chr18:28521154..28560079hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3838926
hg1938926
hg1838926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056335, nsv1062187, nsv1060732, nsv1062522, nsv1059928
Samples
Known GenesKLHL14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3330n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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