A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3118040



Internal ID21301306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12832255..12839932hg38UCSC Ensembl
Innerchr19:12943069..12950746hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg387678
hg197678
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14101551, nssv14102913
Samplessample404, sample378
Known GenesMAST1, RTBDN
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3118040
Frequency
Sample Size467
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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