A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17726725



Internal ID150391
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 StatusS
Merged Variantsnsv5541234
Supporting Variants
Samples
Known GenesCBR1, CBR3, CBR3-AS1, DOPEY2, LOC100133286, SETD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17726725
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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