A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160110



Internal ID18957544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43025412..43028957hg38UCSC Ensembl
Outerchr13:43013578..43033979hg38UCSC Ensembl
Innerchr13:43599548..43603093hg19UCSC Ensembl
Outerchr13:43587714..43608115hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3820402
hg1920402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv81n111
Supporting Variantsnssv4031671, nssv4031672, nssv4031669, nssv4031670
Samples
Known GenesDNAJC15
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)nsv1160110
Frequency
Sample Size369
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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