A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698077



Internal ID21724398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10308861..10308861hg38UCSC Ensembl
chr18:10308858..10308858hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17200804, nssv17233237
Samples
Known Genes
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)nsv5698077
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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