A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479475



Internal ID256998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80269376..80276324hg38UCSC Ensembl
chr8:81181611..81188559hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg386949
hg196949
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013338
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479475
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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