A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116823



Internal ID21300089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:22318357..22326943hg38UCSC Ensembl
Innerchr10:22607286..22615872hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg388587
hg198587
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv149n145
Supporting Variantsnssv14088775, nssv14089930
Samplessample412, sample310
Known GenesBMI1, COMMD3, COMMD3-BMI1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116823
Frequency
Sample Size467
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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