A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501365



Internal ID278264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54151912..54163794hg38UCSC Ensembl
chr14:54618630..54630512hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg3811883
hg1911883
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694877
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501365
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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