A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv279n111



Internal ID20164008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113058286..113127446hg38UCSC Ensembl
chr9:115820566..115889726hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3869161
hg1969161
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161902, nsv1161901, nsv1161900
Samples
Known GenesFAM225A, FAM225B
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)dgv279n111
Frequency
Sample Size369
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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