A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161306



Internal ID19304432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:163794203..163796369hg38UCSC Ensembl
Outerchr5:163792003..163800251hg38UCSC Ensembl
Innerchr5:163221209..163223375hg19UCSC Ensembl
Outerchr5:163219009..163227257hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg388249
hg198249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv212n111
Supporting Variantsnssv4033835
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)nsv1161306
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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