A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483391



Internal ID260827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66246968..66249474hg38UCSC Ensembl
chr8:67159203..67161709hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg382507
hg192507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013724
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483391
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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