A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528069



Internal ID304140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55040255..55122369hg38UCSC Ensembl
chr19:55551623..55633737hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3882115
hg1982115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725626
Samples
Known GenesEPS8L1, PPP1R12C, RDH13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528069
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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