A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540227



Internal ID315024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32342658..32342709hg38UCSC Ensembl
chr21:33714967..33715018hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726593
Samples
Known GenesURB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540227
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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