A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552197



Internal ID325591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42618417..42620955hg38UCSC Ensembl
chr21:44038527..44041065hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382539
hg192539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727070
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552197
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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