A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17852366



Internal ID22036009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48880661..48880661hg38UCSC Ensembl
chr1:49346333..49346333hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6243357
Supporting Variants
Samples
Known GenesAGBL4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17852366
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