A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv120n111



Internal ID22798320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:33045427..33740373hg38UCSC Ensembl
chr16:33056748..33542840hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38694947
hg19486093
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160407, nsv1160405
Samples
Known GenesLOC390705, RNU6-76P, TP53TG3, TP53TG3B, TP53TG3C
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)dgv120n111
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