A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv34n111



Internal ID22798234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:57809329..58015004hg38UCSC Ensembl
chr10:59569089..59774764hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38205676
hg19205676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161965, nsv1161966
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)dgv34n111
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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