A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716772



Internal ID140438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:25957493..25960741hg38UCSC Ensembl
chr18:23537457..23540705hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg383249
hg193249
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527605
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716772
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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