A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519370



Internal ID295722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38950898..38951300hg38UCSC Ensembl
chr19:39441538..39441940hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723297
Samples
Known GenesFBXO17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519370
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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