A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479992



Internal ID257505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18894167..19139930hg38UCSC Ensembl
chr8:18751677..18997440hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38245764
hg19245764
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009026
Samples
Known GenesPSD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479992
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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