A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502585



Internal ID279445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:56818091..56818629hg38UCSC Ensembl
chr14:57284809..57285347hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696411
Samples
Known GenesOTX2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502585
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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