A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505720



Internal ID282486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50396654..50396713hg38UCSC Ensembl
chr14:50863372..50863431hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695205
Samples
Known GenesCDKL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505720
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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