A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414247



Internal ID193530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5486109..5486111hg38UCSC Ensembl
chr18:5486108..5486110hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716047
Samples
Known GenesEPB41L3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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