A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113833



Internal ID21297099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:54928190..54934383hg38UCSC Ensembl
Innerchr18:52595421..52601614hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg386194
hg196194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv527n145
Supporting Variantsnssv14100045, nssv14099546
Samplessample102, sample210
Known GenesCCDC68
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113833
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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