A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526747



Internal ID302863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54696704..54696843hg38UCSC Ensembl
chr18:52363935..52364074hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718349
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526747
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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