A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707545



Internal ID21733866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12887804..12887804hg38UCSC Ensembl
chr18:12887803..12887803hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17200502
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)nsv5707545
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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