A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542240



Internal ID316677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24336642..24336642hg38UCSC Ensembl
chr16:24347963..24347963hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706548
Samples
Known GenesCACNG3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542240
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer