A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684438



Internal ID21710759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35735480..35735480hg38UCSC Ensembl
chr5:35735582..35735582hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17212155, nssv17176945
Samples
Known GenesSPEF2
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)nsv5684438
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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