A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699269



Internal ID21725590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13038751..13038751hg38UCSC Ensembl
chr18:13038750..13038750hg19UCSC 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 Variantsnssv17200506
Samples
Known GenesCEP192
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5699269
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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