A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417485



Internal ID196680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9668913..9668964hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733874
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417485
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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