A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516789



Internal ID293237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11821307..11860154hg38UCSC Ensembl
chr16:11915164..11954011hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3838848
hg1938848
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17704613
Samples
Known GenesBCAR4, RSL1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516789
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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