A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511999



Internal ID288567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57401522..57401924hg38UCSC Ensembl
chr14:57868240..57868642hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694899
Samples
Known GenesNAA30
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511999
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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