A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707808



Internal ID21734129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32189482..32189482hg38UCSC Ensembl
chr18:29769445..29769445hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17217948, nssv17201773
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)nsv5707808
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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