A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17859047



Internal ID22042690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111244309..111244309hg38UCSC Ensembl
chr5:110580007..110580007hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6244682
Supporting Variants
Samples
Known GenesCAMK4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17859047
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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