A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv552n145



Internal ID22813568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12828752..12839932hg38UCSC Ensembl
chr19:12939566..12950746hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3811181
hg1911181
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3112737, nsv3116721
Samplessample81, sample296
Known GenesMAST1, RTBDN
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv552n145
Frequency
Sample Size467
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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