A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6242410



Internal ID22047020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48416812..48416812hg38UCSC Ensembl
chr18:45943183..45943183hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849485
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6242410
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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