A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512786



Internal ID289332
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 StatusM
Merged Variants
Supporting Variantsnssv17686444
Samples
Known GenesATP5EP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512786
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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