A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488139



Internal ID265459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:93877704..93881032hg38UCSC Ensembl
chr8:94889932..94893260hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg383329
hg193329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014510
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488139
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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