A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716352



Internal ID140018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13038751..13038802hg38UCSC Ensembl
chr18:13038750..13038801hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5417911
Supporting Variants
Samples
Known GenesCEP192
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716352
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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