A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530475



Internal ID306459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48785508..48789372hg38UCSC Ensembl
chr18:46311879..46315743hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg383865
hg193865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718037
Samples
Known GenesCTIF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530475
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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