A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548259



Internal ID322032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:18571608..18571608hg38UCSC Ensembl
chr20:18552252..18552252hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731373
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548259
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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