A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3004n100



Internal ID20154620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69990674..70164481hg38UCSC Ensembl
chr16:70024577..70198384hg19UCSC Ensembl
chr16:68582078..68755885hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38173808
hg19173808
hg18173808
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062389, nsv1058574, nsv1063201, nsv1059315, nsv1056958
Samples
Known GenesMIR1972-1, 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)dgv3004n100
Frequency
Sample Size29084
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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