A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482168



Internal ID259626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86945458..86978799hg38UCSC Ensembl
chr8:87957686..87991027hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3833342
hg1933342
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015505
Samples
Known GenesCNBD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482168
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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