A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3005n100



Internal ID20154621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69990674..70179129hg38UCSC Ensembl
chr16:70024577..70213032hg19UCSC Ensembl
chr16:68582078..68770533hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38188456
hg19188456
hg18188456
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066763, nsv1059495, nsv1061380, nsv1056022
Samples
Known GenesCLEC18C, 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)dgv3005n100
Frequency
Sample Size29084
Observed Gain10
Observed Loss5
Observed Complex0
Frequencyn/a


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