A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6242446



Internal ID22047056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:52173790..52173790hg38UCSC Ensembl
chr18:49700160..49700160hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849518
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6242446
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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