A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv246n111



Internal ID20163975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141387090..141390368hg38UCSC Ensembl
chr7:141086890..141090168hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg383279
hg193279
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161621, nsv1161619
Samples
Known GenesTMEM178B
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)dgv246n111
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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