A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942494



Internal ID22717932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:27934133..27954571hg38UCSC Ensembl
chr13:28508270..28528708hg19UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg3820439
hg1920439
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386808
Samples
Known GenesATP5EP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942494
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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