A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698002



Internal ID21724323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100047145..100047145hg38UCSC Ensembl
chr14:100513482..100513482hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17196703, nssv17232526
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)nsv5698002
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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