A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040299



Internal ID18952435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:50512480..50532187hg38UCSC Ensembl
Outerchr20:50509110..50534089hg38UCSC Ensembl
Innerchr20:49129017..49148724hg19UCSC Ensembl
Outerchr20:49125647..49150626hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3824980
hg1924980
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160683
Supporting Variants
Samples
Known GenesPTPN1
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)nssv4040299
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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