A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510289



Internal ID286913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:56006637..56013713hg38UCSC Ensembl
chr14:56473355..56480431hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg387077
hg197077
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696376
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510289
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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