A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433355



Internal ID212075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:34291866..34291917hg38UCSC Ensembl
chr18:31871830..31871881hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717255
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433355
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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