A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv86n111



Internal ID22798286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:19350758..19956767hg38UCSC Ensembl
chr14:19938441..20424926hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38606010
hg19486486
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160153, nsv1160155
Samples
Known GenesOR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEM
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)dgv86n111
Frequency
Sample Size369
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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