A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv18n111



Internal ID19022499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111285127..111301836hg38UCSC Ensembl
chr1:111827749..111844458hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3816710
hg1916710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161401, nsv1161402
Samples
Known GenesCHIA, CHIAP2
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)dgv18n111
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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