A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117949



Internal ID21301215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:237589674..237592159hg38UCSC Ensembl
Innerchr1:237752974..237755459hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg382486
hg192486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14093195
Samplessample282
Known GenesRYR2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117949
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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