A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv528n145



Internal ID22813544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54927992..54931841hg38UCSC Ensembl
chr18:52595223..52599072hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg383850
hg193850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3117270, nsv3112722
Samplessample111, sample23
Known GenesCCDC68
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv528n145
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer