A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5536582



Internal ID312035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41354658..41413944hg38UCSC Ensembl
chr21:42726585..42785871hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3859287
hg1959287
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726991
Samples
Known GenesFAM3B, MX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5536582
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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