A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv106n111



Internal ID19022587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:30608675..30807423hg38UCSC Ensembl
chr15:30900878..31099626hg19UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38198749
hg19198749
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160274, nsv1160273
Samples
Known GenesARHGAP11B, GOLGA8H, LOC100288637
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)dgv106n111
Frequency
Sample Size369
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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