A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488420



Internal ID265732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130527234..130560981hg38UCSC Ensembl
chr8:131539480..131573227hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3833748
hg1933748
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735865
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488420
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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