A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159761



Internal ID18957463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:102380521..102428502hg38UCSC Ensembl
Outerchr10:102372778..102430809hg38UCSC Ensembl
Innerchr10:104140278..104188259hg19UCSC Ensembl
Outerchr10:104132535..104190566hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg3858032
hg1958032
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4030150
Samples
Known GenesCUEDC2, FBXL15, GBF1, NFKB2, PSD
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)nsv1159761
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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