A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159820



Internal ID19303101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5766175..5788231hg38UCSC Ensembl
Outerchr11:5762693..5791130hg38UCSC Ensembl
Innerchr11:5787405..5809461hg19UCSC Ensembl
Outerchr11:5783923..5812360hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3828438
hg1928438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv42n111
Supporting Variantsnssv4030377, nssv4030376, nssv4030373, nssv4030374, nssv4030375, nssv4030372
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)nsv1159820
Frequency
Sample Size369
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer