A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509896



Internal ID286532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67089068..67105491hg38UCSC Ensembl
chr14:67555785..67572208hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3816424
hg1916424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698249
Samples
Known GenesGPHN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509896
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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