A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480968



Internal ID258464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143839996..143840054hg38UCSC Ensembl
chr8:144922168..144922226hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17019958
Samples
Known GenesNRBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480968
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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