A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14088802



Internal ID21277394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:237040070..237044000hg38UCSC Ensembl
Innerchr1:237203370..237207300hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg383931
hg193931
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3114692
Supporting Variants
Samplessample250
Known GenesRYR2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14088802
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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