A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv510n145



Internal ID22813526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5888233..5898936hg38UCSC Ensembl
chr18:5888232..5898935hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3810704
hg1910704
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3115096, nsv3111104
Samplessample397, sample273
Known GenesTMEM200C
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv510n145
Frequency
Sample Size467
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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