A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429648



Internal ID208489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53465846..53465897hg38UCSC Ensembl
chr16:53499758..53499809hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17705904
Samples
Known GenesRBL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429648
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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