A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17855299



Internal ID22038942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:177195459..177195459hg38UCSC Ensembl
chr3:176913247..176913247hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6260038
Supporting Variants
Samples
Known GenesTBL1XR1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17855299
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