A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554461



Internal ID327647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68827323..69009082hg38UCSC Ensembl
chr4:69693041..69874800hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38181760
hg19181760
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16950546
Samples
Known GenesUGT2A3, UGT2B10
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554461
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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