A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458497



Internal ID236518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54574225..54647677hg38UCSC Ensembl
chr4:55440392..55513844hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3873453
hg1973453
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16950106
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458497
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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