A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454917



Internal ID233010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16398143..16399738hg38UCSC Ensembl
chr6:16398374..16399969hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg381596
hg191596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981061
Samples
Known GenesATXN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454917
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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