A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473828



Internal ID251510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133760460..133760517hg38UCSC Ensembl
chr6:134081598..134081655hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969535
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473828
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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