A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159802



Internal ID19304007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4228783..4331751hg38UCSC Ensembl
Outerchr11:4217824..4337579hg38UCSC Ensembl
Innerchr11:4250013..4352981hg19UCSC Ensembl
Outerchr11:4239054..4358809hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38119756
hg19119756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv41n111
Supporting Variantsnssv4030284
Samples
Known Genes
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)nsv1159802
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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