A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3013n100



Internal ID22789100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70117612..70247863hg38UCSC Ensembl
chr16:70151515..70281766hg19UCSC Ensembl
chr16:68709016..68839267hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38130252
hg19130252
hg18130252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062405, nsv1062904, nsv1063341, nsv1066731, nsv1063704, nsv1058420, nsv1066399
Samples
Known GenesCLEC18C, LOC100506060, PDPR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3013n100
Frequency
Sample Size11257
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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