A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457478



Internal ID235521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171421016..171421078hg38UCSC Ensembl
chr5:170848020..170848082hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977155
Samples
Known GenesFGF18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457478
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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