A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458850



Internal ID236871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132826197..132826494hg38UCSC Ensembl
chr5:132161889..132162186hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975054
Samples
Known GenesSHROOM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458850
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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