A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987079



Internal ID21896422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:194771094..195296061hg38UCSC Ensembl
chr2:195635818..196160785hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38524968
hg19524968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17524131
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987079
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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