A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111592



Internal ID21294858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:237040070..237043886hg38UCSC Ensembl
Innerchr1:237203370..237207186hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg383817
hg193817
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv125n145
Supporting Variantsnssv14093269
Samplessample308
Known GenesRYR2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111592
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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