A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv125n111



Internal ID20163854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:77160222..77193772hg38UCSC Ensembl
chr16:77194119..77227669hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3833551
hg1933551
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160436, nsv1160435
Samples
Known GenesMON1B
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)dgv125n111
Frequency
Sample Size369
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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