A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544475



Internal ID318615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37479970..37479970hg38UCSC Ensembl
chr21:38852272..38852272hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38371
hg19371
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734778
Samples
Known GenesDYRK1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544475
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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