A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv264n111



Internal ID22798464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12359339..12695213hg38UCSC Ensembl
chr8:12216848..12552722hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38335875
hg19335875
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161721, nsv1161722
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
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)dgv264n111
Frequency
Sample Size369
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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