A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506506



Internal ID283253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21455390..21561947hg38UCSC Ensembl
chr14:21923549..22030078hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38106558
hg19106530
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695334
Samples
Known GenesMETTL3, RAB2B, SALL2, TOX4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506506
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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