A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159937



Internal ID18957242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:110171005..110178094hg38UCSC Ensembl
Outerchr11:110169507..110182165hg38UCSC Ensembl
Innerchr11:110041730..110048819hg19UCSC Ensembl
Outerchr11:110040232..110052890hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3812659
hg1912659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4030914
Samples
Known GenesRDX, ZC3H12C
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)nsv1159937
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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