A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161081



Internal ID18956213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:46894885..46917213hg38UCSC Ensembl
Outerchr4:46892510..46923282hg38UCSC Ensembl
Innerchr4:46896902..46919230hg19UCSC Ensembl
Outerchr4:46894527..46925299hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3830773
hg1930773
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4028892
Samples
Known GenesCOX7B2, GABRA4
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)nsv1161081
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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