A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690708



Internal ID21717029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198977762..198977762hg38UCSC Ensembl
chr1:198946891..198946891hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17187589, nssv17206980
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)nsv5690708
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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