A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5491619



Internal ID268852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123855680..123855753hg38UCSC Ensembl
chr8:124867920..124867993hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017029
Samples
Known GenesFER1L6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5491619
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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