A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159791



Internal ID18957226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:465073..906708hg38UCSC Ensembl
Outerchr11:461793..909492hg38UCSC Ensembl
Innerchr11:465073..906708hg19UCSC Ensembl
Outerchr11:461793..909492hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38447700
hg19447700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4030244
Samples
Known GenesC11orf35, CD151, CDHR5, CEND1, CHID1, DEAF1, DRD4, EFCAB4A, EPS8L2, HRAS, IRF7, LOC143666, LRRC56, MIR210, MIR210HG, NS3BP, PDDC1, PHRF1, PIDD, PNPLA2, POLR2L, PTDSS2, RASSF7, RNH1, RPLP2, SCT, SLC25A22, SNORA52, TALDO1, TMEM80, TSPAN4
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)nsv1159791
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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