A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14105820



Internal ID21290069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:237590585..237592159hg38UCSC Ensembl
Innerchr1:237753885..237755459hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381575
hg191575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3112406
Supporting Variants
Samplessample55
Known GenesRYR2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14105820
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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