A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527096



Internal ID303202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54227565..54230595hg38UCSC Ensembl
chr18:51753935..51756965hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg383031
hg193031
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718314
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527096
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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