A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160133



Internal ID19302924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:65418738..65583257hg38UCSC Ensembl
Outerchr13:65413741..65586779hg38UCSC Ensembl
Innerchr13:65992870..66157389hg19UCSC Ensembl
Outerchr13:65987873..66160911hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg38173039
hg19173039
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4031708
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)nsv1160133
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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