A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524988



Internal ID301168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3682354..3725806hg38UCSC Ensembl
chr16:3732355..3775807hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3843453
hg1943453
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706387
Samples
Known GenesCREBBP, TRAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524988
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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