A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161297



Internal ID19303989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:123346640..123370043hg38UCSC Ensembl
Outerchr5:123340647..123372682hg38UCSC Ensembl
Innerchr5:122682334..122705737hg19UCSC Ensembl
Outerchr5:122676341..122708376hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3832036
hg1932036
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4033727
Samples
Known GenesCEP120
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)nsv1161297
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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