A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv271n111



Internal ID20164000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143601764..143642893hg38UCSC Ensembl
chr8:144683934..144725063hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3841130
hg1941130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161811, nsv1161813, nsv1161812
Samples
Known GenesPYCRL, TSTA3, ZNF623
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)dgv271n111
Frequency
Sample Size369
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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