A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496790



Internal ID273858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39280711..39286155hg38UCSC Ensembl
chr14:39749915..39755359hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg385445
hg195445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696528
Samples
Known GenesCTAGE5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496790
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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