A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698954



Internal ID122620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79841755..79877569hg38UCSC Ensembl
chr14:80308098..80343912hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3835815
hg1935815
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494866
Supporting Variants
Samples
Known GenesNRXN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698954
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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