A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514402



Internal ID290899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50665704..50666814hg38UCSC Ensembl
chr20:49282241..49283351hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381111
hg191111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732894
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514402
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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