A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414225



Internal ID193511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:80018837..80018868hg38UCSC Ensembl
chr13:80592972..80593003hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693345
Samples
Known GenesLINC01080
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414225
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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