A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249973



Internal ID21697482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:10686500..10686500hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg382033
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715633
Supporting Variants
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17249973
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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