A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429290



Internal ID208140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23259502..23259553hg38UCSC Ensembl
chr18:20839466..20839517hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716647
Samples
Known GenesCABLES1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429290
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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