A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116721



Internal ID21299987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12829038..12839662hg38UCSC Ensembl
Innerchr19:12939852..12950476hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3810625
hg1910625
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv552n145
Supporting Variantsnssv14101225
Samplessample81
Known GenesMAST1, RTBDN
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116721
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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