A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv169n111



Internal ID20163898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18745406..19019471hg38UCSC Ensembl
chr22:18732919..19006984hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38274066
hg19274066
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160724, nsv1160725
Samples
Known GenesDGCR5, DGCR6, DGCR9, GGT3P, PRODH
MethodSNP array
Analysis1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceLou_et_al_2015
Pubmed ID26073780
Accession Number(s)dgv169n111
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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