A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv165n111



Internal ID22798365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:13064470..13188389hg38UCSC Ensembl
chr21:14436791..14560710hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38123920
hg19123920
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160698, nsv1160696
Samples
Known GenesANKRD30BP2
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)dgv165n111
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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