A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv227n111



Internal ID22798427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:80564619..80584624hg38UCSC Ensembl
chr6:81274336..81294341hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3820006
hg1920006
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161423, nsv1161426, nsv1161425
Samples
Known Genes
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)dgv227n111
Frequency
Sample Size369
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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