A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687221



Internal ID21713542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:121873914..121873914hg38UCSC Ensembl
chr5:121209609..121209609hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177455
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)nsv5687221
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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