A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394532



Internal ID173961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124541430..124541481hg38UCSC Ensembl
chr8:125553671..125553722hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017133
Samples
Known GenesNDUFB9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394532
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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