A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698217



Internal ID121883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66577622..66650851hg38UCSC Ensembl
chr14:67044340..67117569hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3873230
hg1973230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503626
Supporting Variants
Samples
Known GenesGPHN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698217
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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