A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520550



Internal ID296876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29408486..29420100hg38UCSC Ensembl
chr16:29419807..29431421hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3811615
hg1911615
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707594
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520550
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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