A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159831



Internal ID19304599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:8470951..8483307hg38UCSC Ensembl
Outerchr11:8462542..8484324hg38UCSC Ensembl
Innerchr11:8492498..8504854hg19UCSC Ensembl
Outerchr11:8484089..8505871hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3821783
hg1921783
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4030444
Samples
Known GenesSTK33
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)nsv1159831
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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