A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527066



Internal ID303172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68004544..68046489hg38UCSC Ensembl
chr16:68038447..68080392hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3841946
hg1941946
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707546
Samples
Known GenesDDX28, DUS2, LOC100131303
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527066
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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