A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv144n111



Internal ID19022625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42786621..43052691hg38UCSC Ensembl
chr19:43290773..43556843hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38266071
hg19266071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1160629, nsv1160631
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG6, PSG7
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)dgv144n111
Frequency
Sample Size369
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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