A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414518



Internal ID193798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8081123..8081174hg38UCSC Ensembl
chr12:8233719..8233770hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054756
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414518
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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