A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497728



Internal ID274752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:53179949..53180019hg38UCSC Ensembl
chr14:53646667..53646737hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696277
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497728
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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