A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8n111



Internal ID22798208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21992508..22015896hg38UCSC Ensembl
chr1:22319001..22342389hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3823389
hg1923389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160377, nsv1160263
Samples
Known GenesCELA3A
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)dgv8n111
Frequency
Sample Size369
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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