A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040578



Internal ID19299400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18760927..19018612hg38UCSC Ensembl
Outerchr22:18745406..19019471hg38UCSC Ensembl
Innerchr22:18748440..19006125hg19UCSC Ensembl
Outerchr22:18732919..19006984hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38274066
hg19274066
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160724
Supporting Variants
Samples
Known GenesDGCR5, DGCR6, DGCR9, GGT3P, PRODH
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)nssv4040578
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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