A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv145n111



Internal ID22798345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43044862..43124576hg38UCSC Ensembl
chr19:43549014..43628728hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3879715
hg1979715
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160638, nsv1160639
Samples
Known GenesPSG2
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)dgv145n111
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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