A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv184n111



Internal ID20163913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189642114..189654562hg38UCSC Ensembl
chr3:189359903..189372351hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3812449
hg1912449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161014, nsv1161015
Samples
Known GenesTP63
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)dgv184n111
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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