A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479717



Internal ID257233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127760504..127760582hg38UCSC Ensembl
chr8:128772750..128772828hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016428
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479717
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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