A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117325



Internal ID21300591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:237590120..237591777hg38UCSC Ensembl
Innerchr1:237753420..237755077hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381658
hg191658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127n145
Supporting Variantsnssv14100419
Samplessample392
Known GenesRYR2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117325
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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