A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550815



Internal ID324324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39461264..39462035hg38UCSC Ensembl
chr21:40833190..40833961hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38772
hg19772
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726892
Samples
Known GenesSH3BGR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550815
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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