A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541234



Internal ID315865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:35873808..36272000hg38UCSC Ensembl
chr21:37246106..37644298hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38398193
hg19398193
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726725
Samples
Known GenesCBR1, CBR3, CBR3-AS1, DOPEY2, LOC100133286, SETD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541234
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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