A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16934482



Internal ID23721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:85818873..85818924hg38UCSC Ensembl
chr3:85868023..85868074hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg38559
hg19559
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554576
Supporting Variants
Samples
Known GenesCADM2, CADM2-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16934482
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.025308


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