A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4028360



Internal ID18945537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:179158027..179170377hg38UCSC Ensembl
Outerchr3:179154246..179174436hg38UCSC Ensembl
Innerchr3:178875815..178888165hg19UCSC Ensembl
Outerchr3:178872034..178892224hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3820191
hg1920191
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161006
Supporting Variants
Samples
Known GenesPIK3CA
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)nssv4028360
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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