A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513240



Internal ID289768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:43995645..43998333hg38UCSC Ensembl
chr15:44287843..44290531hg19UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg382689
hg192689
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17702973
Samples
Known GenesFRMD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513240
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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