A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512279



Internal ID288837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:67545871..67575613hg38UCSC Ensembl
chr13:68120003..68149745hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3829743
hg1929743
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17691686
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512279
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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