A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528449



Internal ID304505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:78079104..78162170hg38UCSC Ensembl
chr18:75839104..75922170hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3883067
hg1983067
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17719757
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528449
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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