A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414530



Internal ID193809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80921440..80921440hg38UCSC Ensembl
chr12:81315219..81315219hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689486
Samples
Known GenesLIN7A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414530
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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