A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv163n111



Internal ID20163892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50509110..50534089hg38UCSC Ensembl
chr20:49125647..49150626hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3824980
hg1924980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160682, nsv1160683
Samples
Known GenesPTPN1
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)dgv163n111
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer