A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499717



Internal ID276678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80502731..80503030hg38UCSC Ensembl
chr14:80969074..80969373hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698993
Samples
Known GenesCEP128
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499717
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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