A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533451



Internal ID309342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32552612..32559715hg38UCSC Ensembl
chr18:30132575..30139678hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg387104
hg197104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717149
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533451
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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