A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550791



Internal ID324303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41859905..41859910hg38UCSC Ensembl
chr5:41860007..41860012hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966440
Samples
Known GenesOXCT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550791
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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