A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493991



Internal ID271152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:71447682..71451225hg38UCSC Ensembl
chr14:71914399..71917942hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg383544
hg193544
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697402
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493991
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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