A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534450



Internal ID310251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39193145..39193238hg38UCSC Ensembl
chr21:40565071..40565164hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726874
Samples
Known GenesBRWD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534450
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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