A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv233n111



Internal ID19022714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4252042..4367232hg38UCSC Ensembl
chr7:4291674..4406863hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38115191
hg19115190
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161481, nsv1161482
Samples
Known GenesSDK1
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)dgv233n111
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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