A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416893



Internal ID196104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:34647018..34647018hg38UCSC Ensembl
chr18:32226982..32226982hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717269
Samples
Known GenesDTNA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416893
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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