A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv274n111



Internal ID22798474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:37499016..37515714hg38UCSC Ensembl
chr9:37499013..37515711hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg3816699
hg1916699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161859, nsv1161858
Samples
Known GenesFBXO10, POLR1E
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)dgv274n111
Frequency
Sample Size369
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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