A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117891



Internal ID21301157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197801537..197806388hg38UCSC Ensembl
Innerchr2:198666261..198671112hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg384852
hg194852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14104610
Samplessample136
Known GenesPLCL1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117891
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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