A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533996



Internal ID309856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36103972..36247544hg38UCSC Ensembl
chr21:37476270..37619842hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38143573
hg19143573
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726746
Samples
Known GenesCBR3, CBR3-AS1, DOPEY2, LOC100133286
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533996
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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