A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv28n111



Internal ID22798228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196832872..196947229hg38UCSC Ensembl
chr1:196802002..196916359hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38114358
hg19114358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1159854, nsv1159856
Samples
Known GenesCFHR2, CFHR4
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)dgv28n111
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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