A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545130



Internal ID319203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45267768..45267934hg38UCSC Ensembl
chr21:46687683..46687849hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727205
Samples
Known GenesPOFUT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545130
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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