A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv107n111



Internal ID20163836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:34421922..34576695hg38UCSC Ensembl
chr15:34714123..34868896hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38154774
hg19154774
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160283, nsv1160282, nsv1160281
Samples
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
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)dgv107n111
Frequency
Sample Size369
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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