A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4030242



Internal ID18947419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133506793..133576392hg38UCSC Ensembl
Outerchr10:133499678..133582780hg38UCSC Ensembl
Innerchr10:135320297..135389896hg19UCSC Ensembl
Outerchr10:135313182..135396284hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3883103
hg1983103
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159789
Supporting Variants
Samples
Known GenesCYP2E1, SPRNP1, SYCE1
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)nssv4030242
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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