A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524005



Internal ID300217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:70402229..70405883hg38UCSC Ensembl
chr18:68069465..68073119hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg383655
hg193655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17719232
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524005
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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