A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548458



Internal ID322208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:28846858..28894639hg38UCSC Ensembl
chr21:30219180..30266961hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3847782
hg1947782
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734575
Samples
Known GenesN6AMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548458
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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