A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513494



Internal ID290017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45145813..45146623hg38UCSC Ensembl
chr14:45615016..45615826hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38811
hg19811
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695168
Samples
Known GenesFANCM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513494
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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