A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480030



Internal ID257542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17270821..17270881hg38UCSC Ensembl
chr8:17128330..17128390hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17008903
Samples
Known GenesVPS37A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480030
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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