A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847473



Internal ID22031116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55117003..55117003hg38UCSC Ensembl
chr18:52784234..52784234hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6242478
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847473
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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