A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528326



Internal ID304387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:33716649..33792418hg38UCSC Ensembl
chr18:31296613..31372382hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3875770
hg1975770
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717215
Samples
Known GenesASXL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528326
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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