A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112472



Internal ID21295738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:190039741..190043751hg38UCSC Ensembl
Innerchr3:189757530..189761540hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg384011
hg194011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14105922
Samplessample125
Known GenesLEPREL1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112472
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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