A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv51n111



Internal ID20163780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60447593..60463593hg38UCSC Ensembl
chr11:60215066..60231066hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3816001
hg1916001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1159901, nsv1159902
Samples
Known GenesMS4A1, MS4A5
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)dgv51n111
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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