A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561207



Internal ID334192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:22468359..22468410hg38UCSC Ensembl
chr18:20048322..20048373hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716607
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561207
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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