A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462468



Internal ID240395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43397559..43408840hg38UCSC Ensembl
chr5:43397661..43408942hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3811282
hg1911282
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967719
Samples
Known GenesCCL28
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462468
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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