A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689640



Internal ID21715961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96520066..96520066hg38UCSC Ensembl
chr1:96985622..96985622hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17175349, nssv17206806
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)nsv5689640
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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