A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv20n111



Internal ID19022501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143538619..143778901hg38UCSC Ensembl
chr1:149024808..149273545hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38240283
hg19248738
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161512, nsv1161511, nsv1161505, nsv1161521, nsv1161556
Samples
Known GenesLOC101929780, NBPF23
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)dgv20n111
Frequency
Sample Size369
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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