A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519518



Internal ID295866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43743709..43743775hg38UCSC Ensembl
chr19:44247861..44247927hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725198
Samples
Known GenesSMG9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519518
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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