A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17849667



Internal ID22033310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9343242..9343242hg38UCSC Ensembl
chr18:9343240..9343240hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6259197
Supporting Variants
Samples
Known GenesTWSG1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17849667
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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