A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17849975



Internal ID22033618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38553801..38553801hg38UCSC Ensembl
chr20:37182444..37182444hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6251430
Supporting Variants
Samples
Known GenesRALGAPB
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17849975
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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