A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114692



Internal ID21297958
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 StatusM
Merged Variantsdgv125n145
Supporting Variantsnssv14092490, nssv14088802
Samplessample300, sample250
Known GenesRYR2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114692
Frequency
Sample Size467
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer