A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472840



Internal ID250542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183948516..183951579hg38UCSC Ensembl
chr4:184869669..184872732hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg383064
hg193064
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16960654
Samples
Known GenesSTOX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472840
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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