A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481120



Internal ID258615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:111245848..111324334hg38UCSC Ensembl
chr8:112258077..112336563hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3878487
hg1978487
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv512n206
Supporting Variantsnssv17735845
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481120
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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