A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159918



Internal ID19302609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:91231986..91316652hg38UCSC Ensembl
Outerchr11:91227879..91320842hg38UCSC Ensembl
Innerchr11:90965154..91049819hg19UCSC Ensembl
Outerchr11:90961047..91054009hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3892964
hg1992963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv54n111
Supporting Variantsnssv4030807, nssv4030808
Samples
Known Genes
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)nsv1159918
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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