A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159908



Internal ID18957222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67723543..67928175hg38UCSC Ensembl
Outerchr11:67715176..67935287hg38UCSC Ensembl
Innerchr11:67491014..67695646hg19UCSC Ensembl
Outerchr11:67482647..67702758hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38220112
hg19220112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv53n111
Supporting Variantsnssv4030793
Samples
Known GenesFAM86C2P
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)nsv1159908
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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