A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504913



Internal ID281707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33831515..33834419hg38UCSC Ensembl
chr13:34405652..34408556hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg382905
hg192905
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686784
Samples
Known GenesRFC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504913
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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