A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159860



Internal ID19302596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:42948033..42949618hg38UCSC Ensembl
Outerchr11:42940281..42955081hg38UCSC Ensembl
Innerchr11:42969583..42971168hg19UCSC Ensembl
Outerchr11:42961831..42976631hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg3814801
hg1914801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4030552, nssv4030553
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)nsv1159860
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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