A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160733



Internal ID18957680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960717..22219595hg38UCSC Ensembl
Outerchr22:21953147..22224948hg38UCSC Ensembl
Innerchr22:22315089..22573987hg19UCSC Ensembl
Outerchr22:22307519..22579341hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38271802
hg19271823
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4040586
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)nsv1160733
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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