A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526194



Internal ID302334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54567687..54579826hg38UCSC Ensembl
chr18:52234918..52247057hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3812140
hg1912140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718344
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526194
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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