A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160511



Internal ID19303441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:22523791..22528537hg38UCSC Ensembl
Outerchr18:22521703..22535891hg38UCSC Ensembl
Innerchr18:20103754..20108500hg19UCSC Ensembl
Outerchr18:20101666..20115854hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3814189
hg1914189
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039456
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)nsv1160511
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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