A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550220



Internal ID323800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32610076..32610076hg38UCSC Ensembl
chr21:33982386..33982386hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381184
hg191184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726615
Samples
Known GenesC21orf59
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550220
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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