A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv40n111



Internal ID22798240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:4208752..4363567hg38UCSC Ensembl
chr11:4229982..4384797hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38154816
hg19154816
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1159795, nsv1159805
Samples
Known Genes
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)dgv40n111
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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