A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv48n111



Internal ID20163777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55592092..55693207hg38UCSC Ensembl
chr11:55359568..55460683hg19UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38101116
hg19101116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1159878, nsv1159880
Samples
Known GenesOR4C11, OR4C6, OR4P4, OR4S2
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)dgv48n111
Frequency
Sample Size369
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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