A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4030788



Internal ID18947965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:62821899..62877500hg38UCSC Ensembl
Outerchr11:62818434..62885307hg38UCSC Ensembl
Innerchr11:62589371..62644972hg19UCSC Ensembl
Outerchr11:62585906..62652779hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3866874
hg1966874
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159903
Supporting Variants
Samples
Known GenesSLC3A2, SNHG1, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, STX5, WDR74
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)nssv4030788
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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