A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv208n111



Internal ID20163937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32095105..32170181hg38UCSC Ensembl
chr5:32095211..32170287hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3875077
hg1975077
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161227, nsv1161230, nsv1161229
Samples
Known GenesGOLPH3, PDZD2
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)dgv208n111
Frequency
Sample Size369
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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