A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684510



Internal ID21710831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184970589..184970589hg38UCSC Ensembl
chr1:184939721..184939721hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17204791, nssv17183608
Samples
Known GenesFAM129A
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)nsv5684510
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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