A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987474



Internal ID21896817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199913188..199913313hg38UCSC Ensembl
chr2:200777911..200778036hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529985
Samples
Known GenesC2orf69
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987474
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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