A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161262



Internal ID19303456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:84888221..84995938hg38UCSC Ensembl
Outerchr5:84886230..85000579hg38UCSC Ensembl
Innerchr5:84184039..84291756hg19UCSC Ensembl
Outerchr5:84182048..84296397hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38114350
hg19114350
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4033537
Samples
Known Genes
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)nsv1161262
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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