A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4027494



Internal ID18944671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:171538711..171546531hg38UCSC Ensembl
Outerchr2:171536097..171553747hg38UCSC Ensembl
Innerchr2:172395221..172403041hg19UCSC Ensembl
Outerchr2:172392607..172410257hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3817651
hg1917651
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160884
Supporting Variants
Samples
Known GenesCYBRD1
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)nssv4027494
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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