A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3118237



Internal ID21301503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:237040802..237044000hg38UCSC Ensembl
Innerchr1:237204102..237207300hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg383199
hg193199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv125n145
Supporting Variantsnssv14099992, nssv14101490, nssv14091273, nssv14099428, nssv14093807, nssv14106531, nssv14097799
Samplessample404, sample81, sample378, sample372, sample397, sample304, sample296
Known GenesRYR2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3118237
Frequency
Sample Size467
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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