A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542688



Internal ID317083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171878632..171878642hg38UCSC Ensembl
chr5:171305636..171305646hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976689
Samples
Known GenesFBXW11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542688
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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