A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14100045



Internal ID21274700
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 StatusS
Merged Variantsnsv3113833
Supporting Variants
Samplessample210
Known GenesCCDC68
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14100045
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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