A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161321



Internal ID18956620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179624537..179683849hg38UCSC Ensembl
Outerchr5:179620185..179696634hg38UCSC Ensembl
Innerchr5:179051538..179110850hg19UCSC Ensembl
Outerchr5:179047186..179123635hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3876450
hg1976450
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv214n111
Supporting Variantsnssv4034087
Samples
Known GenesC5orf60, CBY3, HNRNPH1
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)nsv1161321
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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