A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv124n111



Internal ID20163853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75520136..75546219hg38UCSC Ensembl
chr16:75554034..75580117hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3826084
hg1926084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160434, nsv1160433
Samples
Known GenesCHST5, TMEM231
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)dgv124n111
Frequency
Sample Size369
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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