A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481899



Internal ID259365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8630894..8633448hg38UCSC Ensembl
chr8:8488404..8490958hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg382555
hg192555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17008232
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481899
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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