A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160689



Internal ID18956194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62193129..62300282hg38UCSC Ensembl
Outerchr20:62188341..62304172hg38UCSC Ensembl
Innerchr20:60768185..60875338hg19UCSC Ensembl
Outerchr20:60763397..60879228hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38115832
hg19115832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4040305
Samples
Known GenesADRM1, HRH3, MTG2, OSBPL2
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)nsv1160689
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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