A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116639



Internal ID21299905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:5888233..5894457hg38UCSC Ensembl
Innerchr18:5888232..5894456hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg386225
hg196225
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv509n145
Supporting Variantsnssv14100285
Samplessample378
Known GenesTMEM200C
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116639
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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