A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4037073



Internal ID18942486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:128087010..128091243hg38UCSC Ensembl
Outerchr8:128085185..128097645hg38UCSC Ensembl
Innerchr8:129099256..129103489hg19UCSC Ensembl
Outerchr8:129097431..129109891hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3812461
hg1912461
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161798
Supporting Variants
Samples
Known GenesPVT1
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)nssv4037073
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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