A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552651



Internal ID325980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39308876..39309696hg38UCSC Ensembl
chr21:40680802..40681622hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38821
hg19821
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726880
Samples
Known GenesBRWD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552651
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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