A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159818



Internal ID19304011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5761695..5787909hg38UCSC Ensembl
Outerchr11:5757293..5788108hg38UCSC Ensembl
Innerchr11:5782925..5809139hg19UCSC Ensembl
Outerchr11:5778523..5809338hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3830816
hg1930816
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv42n111
Supporting Variantsnssv4030369, nssv4030368, nssv4030367
Samples
Known GenesOR52N1, OR52N5
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)nsv1159818
Frequency
Sample Size369
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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