A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553478



Internal ID326723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:114013519..114013554hg38UCSC Ensembl
chr8:115025748..115025783hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015932
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553478
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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