A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160060



Internal ID18956329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104467716..104479834hg38UCSC Ensembl
Outerchr12:104460233..104482789hg38UCSC Ensembl
Innerchr12:104861494..104873612hg19UCSC Ensembl
Outerchr12:104854011..104876567hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3822557
hg1922557
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4031537
Samples
Known GenesCHST11
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)nsv1160060
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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