A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514103



Internal ID290605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50074050..50076045hg38UCSC Ensembl
chr20:48690587..48692582hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381996
hg191996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732861
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514103
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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