A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516743



Internal ID293191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:22138826..22141996hg38UCSC Ensembl
chr18:19718787..19721957hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg383171
hg193171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716587
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516743
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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