A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530385



Internal ID306372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49487226..49493412hg38UCSC Ensembl
chr19:49990483..49996669hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg386187
hg196187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724006
Samples
Known GenesRPL13A, RPL13AP5, SNORD32A, SNORD33, SNORD34, SNORD35A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530385
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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