A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159875



Internal ID19302446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55059337..55268996hg38UCSC Ensembl
Outerchr11:55027203..55271781hg38UCSC Ensembl
Innerchr11:54826813..55036472hg19UCSC Ensembl
Outerchr11:54794679..55039257hg19UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38244579
hg19244579
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4030685
Samples
Known GenesTRIM48
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)nsv1159875
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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