A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424426



Internal ID203418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17116478..17116529hg38UCSC Ensembl
chr19:17227288..17227339hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721921
Samples
Known GenesMYO9B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424426
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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