A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717084



Internal ID140750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31693746..31693869hg38UCSC Ensembl
chr18:29273709..29273832hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529517
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717084
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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