A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717126



Internal ID140792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32154741..32160463hg38UCSC Ensembl
chr18:29734704..29740426hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg385723
hg195723
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529108
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717126
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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