A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16920964



Internal ID14759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165390498..165390549hg38UCSC Ensembl
chr2:166247008..166247059hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5395521
Supporting Variants
Samples
Known GenesSCN2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16920964
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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