A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468841



Internal ID246632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117620240..117653698hg38UCSC Ensembl
chr5:116955935..116989393hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3833459
hg1933459
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16972784
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468841
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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