A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv123n111



Internal ID20163852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66568129..66581930hg38UCSC Ensembl
chr16:66602032..66615833hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3813802
hg1913802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160428, nsv1160427
Samples
Known GenesCKLF-CMTM1, CMTM1, CMTM2
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)dgv123n111
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