A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3048n100



Internal ID20154664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81170818..81270154hg38UCSC Ensembl
chr16:81204423..81303759hg19UCSC Ensembl
chr16:79761924..79861260hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3899337
hg1999337
hg1899337
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057230, nsv1063482, nsv1067235
Samples
Known GenesBCMO1, PKD1L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3048n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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