A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494252



Internal ID271403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51044659..51044723hg38UCSC Ensembl
chr13:51618795..51618859hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687733
Samples
Known GenesGUCY1B2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494252
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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