A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv94n111



Internal ID22798294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:19938398..20512143hg38UCSC Ensembl
chr15:20143651..20717386hg19UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38573746
hg19573736
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160217, nsv1160214
Samples
Known GenesCHEK2P2, HERC2P3
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)dgv94n111
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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