A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418560



Internal ID197724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:42732931..42732982hg38UCSC Ensembl
chr18:40312896..40312947hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717708
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418560
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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