A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161845



Internal ID18956559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:18960698..19116545hg38UCSC Ensembl
Outerchr9:18960488..19122709hg38UCSC Ensembl
Innerchr9:18960696..19116543hg19UCSC Ensembl
Outerchr9:18960486..19122707hg19UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg38162222
hg19162222
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4037361
Samples
Known GenesFAM154A, HAUS6, PLIN2, RRAGA, SCARNA8
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)nsv1161845
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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