A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv32n111



Internal ID20163761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46169953..46368047hg38UCSC Ensembl
chr10:47541189..47739264hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38198095
hg19198076
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161947, nsv1161948
Samples
Known GenesANTXRL, ANTXRLP1
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)dgv32n111
Frequency
Sample Size369
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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