A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv140n111



Internal ID19022621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:22243464..23029482hg38UCSC Ensembl
chr19:22426266..23212284hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38786019
hg19786019
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160604, nsv1160602
Samples
Known GenesLOC100996349, LOC440518, ZNF492, ZNF728, ZNF729, ZNF98, ZNF99
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)dgv140n111
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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