A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv30n111



Internal ID22798230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:37653955..37665425hg38UCSC Ensembl
chr10:37942883..37954353hg19UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg3811471
hg1911471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161938, nsv1161939
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)dgv30n111
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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