A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685875



Internal ID21712196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18496392..18496392hg38UCSC Ensembl
chr6:18496623..18496623hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17178689, nssv17227741
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)nsv5685875
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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