A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499007



Internal ID275988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63457328..63464690hg38UCSC Ensembl
chr14:63924046..63931408hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg387363
hg197363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698130
Samples
Known GenesPPP2R5E
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499007
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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