A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17857163



Internal ID22040806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11348672..11348672hg38UCSC Ensembl
chr5:11348784..11348784hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6255971
Supporting Variants
Samples
Known GenesCTNND2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17857163
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