A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486298



Internal ID263667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8901118..9366727hg38UCSC Ensembl
chr8:8758628..9224237hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38465610
hg19465610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17006729
Samples
Known GenesERI1, LOC157273, MIR4660, PPP1R3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486298
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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