A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117563



Internal ID21300829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197816769..197819699hg38UCSC Ensembl
Innerchr2:198681493..198684423hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382931
hg192931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14104740
Samplessample157
Known GenesPLCL1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117563
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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