A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040585



Internal ID18952721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960717..22114208hg38UCSC Ensembl
Outerchr22:21953147..22119549hg38UCSC Ensembl
Innerchr22:22315089..22468619hg19UCSC Ensembl
Outerchr22:22307519..22473918hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38166403
hg19166400
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160731
Supporting Variants
Samples
Known GenesTOP3B
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)nssv4040585
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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