A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555940



Internal ID329089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65664582..65664633hg38UCSC Ensembl
chr14:66131300..66131351hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38594
hg19594
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697731
Samples
Known GenesFUT8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555940
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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