A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159914



Internal ID18957327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:89068826..89180495hg38UCSC Ensembl
Outerchr11:89065188..89182069hg38UCSC Ensembl
Innerchr11:88801994..88913663hg19UCSC Ensembl
Outerchr11:88798356..88915237hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg38116882
hg19116882
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4030802
Samples
Known GenesTYR
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)nsv1159914
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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