A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482121



Internal ID259582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:104337671..104337740hg38UCSC Ensembl
chr8:105349899..105349968hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015679
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482121
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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