A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2998n100



Internal ID20154614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69943494..70200621hg38UCSC Ensembl
chr16:69977397..70234524hg19UCSC Ensembl
chr16:68534898..68792025hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38257128
hg19257128
hg18257128
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1065878, nsv1056685, nsv1057434, nsv1063690, nsv1067124
Samples
Known GenesCLEC18A, CLEC18C, MIR1972-1, MIR1972-2, PDPR, PDXDC2P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2998n100
Frequency
Sample Size29084
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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