A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457488



Internal ID235531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112316233..112372473hg38UCSC Ensembl
chr6:112637435..112693675hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3856241
hg1956241
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16986463
Samples
Known GenesRFPL4B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457488
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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