A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531473



Internal ID307433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53896012..53904777hg38UCSC Ensembl
chr20:52512551..52521316hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg388766
hg198766
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733087
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531473
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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