A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116344



Internal ID21299610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:33371984..33376074hg38UCSC Ensembl
Innerchr19:33862890..33866980hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg384091
hg194091
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv563n145
Supporting Variantsnssv14100451, nssv14100525, nssv14101197
Samplessample70, sample220, sample188
Known GenesCEBPG
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116344
Frequency
Sample Size467
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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