A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502421



Internal ID279290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:41583887..41584044hg38UCSC Ensembl
chr14:42053090..42053247hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695014
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502421
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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