A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159945



Internal ID18957366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134282136..134340968hg38UCSC Ensembl
Outerchr11:134280635..134346971hg38UCSC Ensembl
Innerchr11:134152030..134210862hg19UCSC Ensembl
Outerchr11:134150529..134216865hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3866337
hg1966337
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv59n111
Supporting Variantsnssv4030923, nssv4030924
Samples
Known GenesGLB1L2, GLB1L3
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)nsv1159945
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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