A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159909



Internal ID18956900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67723543..67964843hg38UCSC Ensembl
Outerchr11:67715176..67968943hg38UCSC Ensembl
Innerchr11:67491014..67732314hg19UCSC Ensembl
Outerchr11:67482647..67736414hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38253768
hg19253768
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv53n111
Supporting Variantsnssv4030795, nssv4030797, nssv4030794, nssv4030796
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)nsv1159909
Frequency
Sample Size369
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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