A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv29n111



Internal ID20163758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248546369..248654081hg38UCSC Ensembl
chr1:248709670..248817382hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38107713
hg19107713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160545, nsv1160538, nsv1160544, nsv1160484, nsv1160489
Samples
Known GenesOR2T10, OR2T11, OR2T27, OR2T29, OR2T34, OR2T35
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)dgv29n111
Frequency
Sample Size369
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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