A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv147n111



Internal ID20163876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46133900..46244456hg38UCSC Ensembl
chr19:46637157..46747713hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38110557
hg19110557
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160653, nsv1160652, nsv1160651, nsv1160650
Samples
Known GenesDKFZp434J0226, IGFL1, IGFL2, RNU6-66P
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)dgv147n111
Frequency
Sample Size369
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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