A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530421



Internal ID306407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47328682..47557000hg38UCSC Ensembl
chr16:47362593..47590911hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38228319
hg19228319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709366
Samples
Known GenesITFG1, PHKB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530421
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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