A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv135n111



Internal ID19022616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1014378..1156398hg38UCSC Ensembl
chr19:1014377..1156397hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38142021
hg19142021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160559, nsv1160556
Samples
Known GenesABCA7, CNN2, GPX4, HMHA1, POLR2E, SBNO2, TMEM259
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)dgv135n111
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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