A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496147



Internal ID273231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78292751..78351278hg38UCSC Ensembl
chr13:78866886..78925413hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg3858528
hg1958528
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693254
Samples
Known GenesRNF219-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496147
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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