A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv509n145



Internal ID22813525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5887621..5894457hg38UCSC Ensembl
chr18:5887620..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 Variants
Supporting Variantsnsv3116897, nsv3115245, nsv3116639, nsv3113195
Samplessample404, sample378, sample372, sample296
Known GenesTMEM200C
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv509n145
Frequency
Sample Size467
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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