A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4036704



Internal ID18942117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:15543669..15555938hg38UCSC Ensembl
Outerchr8:15543415..15565761hg38UCSC Ensembl
Innerchr8:15401178..15413447hg19UCSC Ensembl
Outerchr8:15400924..15423270hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3822347
hg1922347
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161735
Supporting Variants
Samples
Known GenesTUSC3
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)nssv4036704
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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