A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487622



Internal ID264955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:108216517..108217332hg38UCSC Ensembl
chr8:109228746..109229561hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38816
hg19816
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015106
Samples
Known GenesEIF3E
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487622
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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