A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14100290



Internal ID21285688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:54926786..54934383hg38UCSC Ensembl
Innerchr18:52594017..52601614hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg387598
hg197598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3116317
Supporting Variants
Samplessample379
Known GenesCCDC68
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14100290
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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