A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116448



Internal ID21299714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:31217120..31262860hg38UCSC Ensembl
Innerchr20:29804955..29850663hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3845741
hg1945709
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14100006
Samplessample265
Known GenesDEFB115
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116448
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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