A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977155



Internal ID52164
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 StatusS
Merged Variantsnsv5457478
Supporting Variants
Samples
Known GenesFGF18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977155
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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