A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161058



Internal ID19303589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:11136765..11163041hg38UCSC Ensembl
Outerchr4:11133631..11166470hg38UCSC Ensembl
Innerchr4:11138389..11164665hg19UCSC Ensembl
Outerchr4:11135255..11168094hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3832840
hg1932840
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4028752
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)nsv1161058
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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