A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527483



Internal ID303582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79559586..79792237hg38UCSC Ensembl
chr18:77319586..77552237hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38232652
hg19232652
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17719911
Samples
Known GenesCTDP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527483
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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