A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6242340



Internal ID22046950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41535076..41535076hg38UCSC Ensembl
chr18:39115040..39115040hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849325
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6242340
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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