A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424380



Internal ID203373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57993559..57993610hg38UCSC Ensembl
chr18:55660791..55660842hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718497
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424380
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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