A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472459



Internal ID250165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181249132..181312215hg38UCSC Ensembl
chr5:180676132..180739216hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3863084
hg1963085
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977893
Samples
Known GenesTRIM52, TRIM52-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472459
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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