A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515129



Internal ID291614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53418682..53454841hg38UCSC Ensembl
chr16:53452594..53488753hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3836160
hg1936160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17705902
Samples
Known GenesRBL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515129
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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