A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528753



Internal ID304797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31940584..31940911hg38UCSC Ensembl
chr18:29520547..29520874hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717108
Samples
Known GenesTRAPPC8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528753
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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