A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529588



Internal ID305600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51450420..51450838hg38UCSC Ensembl
chr18:48976790..48977208hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38419
hg19419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718162
Samples
Known GenesLOC100287225
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529588
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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