A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159794



Internal ID19304333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4166052..4228782hg38UCSC Ensembl
Outerchr11:4162656..4234899hg38UCSC Ensembl
Innerchr11:4187282..4250012hg19UCSC Ensembl
Outerchr11:4183886..4256129hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3872244
hg1972244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4030246
Samples
Known GenesLOC100506082
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)nsv1159794
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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