A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433596



Internal ID212304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:25762883..25762934hg38UCSC Ensembl
chr21:27135194..27135245hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734515
Samples
Known GenesGABPA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433596
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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