A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433055



Internal ID211781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:69215066..69215117hg38UCSC Ensembl
chr18:66882303..66882354hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17719167
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433055
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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