A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500143



Internal ID277085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49588888..49597671hg38UCSC Ensembl
chr14:50055606..50064389hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg388784
hg198784
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696657
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500143
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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