A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699864



Internal ID21726185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:57685030..57685030hg38UCSC Ensembl
chr8:58597589..58597589hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17183547
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)nsv5699864
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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