A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543873



Internal ID318090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:60696063..60696063hg38UCSC Ensembl
chr18:58363296..58363296hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718664
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543873
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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