A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496359



Internal ID273435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80090402..80096253hg38UCSC Ensembl
chr14:80556745..80562596hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg385852
hg195852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698967
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496359
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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