A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533410



Internal ID309300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8561353..8561420hg38UCSC Ensembl
chr19:8626237..8626304hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721164
Samples
Known GenesMYO1F
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533410
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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