A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541101



Internal ID315748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39623808..39639808hg38UCSC Ensembl
chr21:40995735..41011735hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3816001
hg1916001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726905
Samples
Known GenesB3GALT5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541101
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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