A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv137n111



Internal ID20163866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8488438..8590905hg38UCSC Ensembl
chr19:8553322..8655789hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38102468
hg19102468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160580, nsv1160581
Samples
Known GenesADAMTS10, HNRNPM, MYO1F, PRAM1, ZNF414
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)dgv137n111
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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