A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501990



Internal ID278869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66759736..66764930hg38UCSC Ensembl
chr14:67226454..67231648hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg385195
hg195195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698232
Samples
Known GenesGPHN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501990
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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