A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5459094



Internal ID237113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:47287377..47287444hg38UCSC Ensembl
chr6:47255113..47255180hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984847
Samples
Known GenesTNFRSF21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5459094
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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