A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4030790



Internal ID18947967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:65840291..65917141hg38UCSC Ensembl
Outerchr11:65836608..65922038hg38UCSC Ensembl
Innerchr11:65607762..65684612hg19UCSC Ensembl
Outerchr11:65604079..65689509hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3885431
hg1985431
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159905
Supporting Variants
Samples
Known GenesC11orf68, CCDC85B, CFL1, CTSW, DRAP1, EFEMP2, FIBP, FOSL1, MUS81, SNX32
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)nssv4030790
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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