A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040774



Internal ID19299596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:34343129..34517333hg38UCSC Ensembl
Outerchr22:34336565..34520614hg38UCSC Ensembl
Innerchr22:34739119..34913325hg19UCSC Ensembl
Outerchr22:34732555..34916606hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38184050
hg19184052
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160752
Supporting Variants
Samples
Known Genes
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)nssv4040774
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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