A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113786



Internal ID21297052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:237041338..237043778hg38UCSC Ensembl
Innerchr1:237204638..237207078hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg382441
hg192441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14088868
Samplessample24
Known GenesRYR2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113786
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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