A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040178



Internal ID18955631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:667621..673497hg38UCSC Ensembl
Outerchr20:665086..674628hg38UCSC Ensembl
Innerchr20:648265..654141hg19UCSC Ensembl
Outerchr20:645730..655272hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg389543
hg199543
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160671
Supporting Variants
Samples
Known GenesSCRT2
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)nssv4040178
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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