A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716064



Internal ID139730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5892114..5892450hg38UCSC Ensembl
chr18:5892113..5892449hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514356
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716064
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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