A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548498



Internal ID322244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179620444..179620444hg38UCSC Ensembl
chr3:179338232..179338232hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16941547
Samples
Known GenesNDUFB5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548498
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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