A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3115245



Internal ID21298511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:5887621..5894457hg38UCSC Ensembl
Innerchr18:5887620..5894456hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg386837
hg196837
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv509n145
Supporting Variantsnssv14100278
Samplessample372
Known GenesTMEM200C
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3115245
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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