A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530050



Internal ID306046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50870683..50879184hg38UCSC Ensembl
chr19:51373939..51382440hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg388502
hg198502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725343
Samples
Known GenesKLK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530050
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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