A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3008n100



Internal ID20154624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70026051..70118407hg38UCSC Ensembl
chr16:70059954..70152310hg19UCSC Ensembl
chr16:68617455..68709811hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3892357
hg1992357
hg1892357
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066022, nsv1056426
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)dgv3008n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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