A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419298



Internal ID198433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33562014..33562065hg38UCSC Ensembl
chr21:34934320..34934371hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726671
Samples
Known GenesSON
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419298
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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