A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161759



Internal ID19303800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:46007651..46554650hg38UCSC Ensembl
Outerchr8:46000692..46558899hg38UCSC Ensembl
Innerchr8:46919273..47466272hg19UCSC Ensembl
Outerchr8:46912314..47470521hg19UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg38558208
hg19558208
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4036934
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)nsv1161759
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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