A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181509



Internal ID20748549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:27934133..27954572hg38UCSC Ensembl
chr13:28508270..28528709hg19UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg3820440
hg1920440
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492129
Supporting Variants
Samples
Known GenesATP5EP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181509
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00245


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