A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458307



Internal ID236336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119180217..119255854hg38UCSC Ensembl
chr5:118515912..118591549hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3875638
hg1975638
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973848
Samples
Known GenesDMXL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458307
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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