A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693251



Internal ID21719572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:52321218..52321218hg38UCSC Ensembl
chr5:51617052..51617052hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17176189, nssv17212942
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)nsv5693251
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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