A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160094



Internal ID18956920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24935708..24941205hg38UCSC Ensembl
Outerchr13:24935368..24942153hg38UCSC Ensembl
Innerchr13:25509846..25515343hg19UCSC Ensembl
Outerchr13:25509506..25516291hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg386786
hg196786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4031608
Samples
Known GenesTPTE2P1
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)nsv1160094
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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