A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17849717



Internal ID22033360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23475930..23475930hg38UCSC Ensembl
chr18:21055894..21055894hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6259247
Supporting Variants
Samples
Known GenesRIOK3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17849717
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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