A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495434



Internal ID272548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79819654..79821161hg38UCSC Ensembl
chr14:80285997..80287504hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381508
hg191508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698952
Samples
Known GenesNRXN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495434
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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