A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417911



Internal ID197096
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 StatusM
Merged Variants
Supporting Variantsnssv17716352
Samples
Known GenesCEP192
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417911
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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