A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159805



Internal ID19302686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4274526..4338058hg38UCSC Ensembl
Outerchr11:4254903..4363567hg38UCSC Ensembl
Innerchr11:4295756..4359288hg19UCSC Ensembl
Outerchr11:4276133..4384797hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38108665
hg19108665
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv40n111
Supporting Variantsnssv4030286
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)nsv1159805
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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