A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698010



Internal ID121676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79596350..79596425hg38UCSC Ensembl
chr14:80062693..80062768hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506152
Supporting Variants
Samples
Known GenesNRXN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698010
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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