A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496405



Internal ID273481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55717732..55798680hg38UCSC Ensembl
chr14:56184450..56265398hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3880949
hg1980949
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696355
Samples
Known GenesLINC00520, RPL13AP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496405
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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