A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698252



Internal ID121918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67192908..67193015hg38UCSC Ensembl
chr14:67659625..67659732hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497456
Supporting Variants
Samples
Known GenesFAM71D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698252
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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