A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421130



Internal ID200216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:88813327..88813378hg38UCSC Ensembl
chr15:89356558..89356609hg19UCSC Ensembl
Cytoband15q26.1
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 Variantsnssv17704080
Samples
Known GenesACAN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421130
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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