A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14104740



Internal ID21270929
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 StatusS
Merged Variantsnsv3117563
Supporting Variants
Samplessample157
Known GenesPLCL1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14104740
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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