A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530433



Internal ID306418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:30649802..30654587hg38UCSC Ensembl
chr18:28229768..28234553hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg384786
hg194786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717029
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530433
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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