A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533156



Internal ID309053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47957749..47957800hg38UCSC Ensembl
chr16:47991660..47991711hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709396
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533156
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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