A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530238



Internal ID306230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87381977..87392328hg38UCSC Ensembl
chr16:87415583..87425934hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3810352
hg1910352
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17708465
Samples
Known GenesFBXO31, MAP1LC3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530238
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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