A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432060



Internal ID210817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125493499..125493510hg38UCSC Ensembl
chr11:125363395..125363406hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053437
Samples
Known GenesFEZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432060
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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