A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17844280



Internal ID22027923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228055218..228055218hg38UCSC Ensembl
chr1:228242919..228242919hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6241041
Supporting Variants
Samples
Known GenesWNT3A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17844280
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