A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525089



Internal ID301264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12910520..12928180hg38UCSC Ensembl
chr18:12910519..12928179hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3817661
hg1917661
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716347
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525089
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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