A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528547



Internal ID304599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3851579..3861397hg38UCSC Ensembl
chr16:3901580..3911398hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg389819
hg199819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706394
Samples
Known GenesCREBBP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528547
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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