A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247265



Internal ID21694774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:24214042..24214042hg38UCSC Ensembl
chr20:24194678..24194678hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg381285
hg191285
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721299
Supporting Variants
Samples
Known GenesFLJ33581
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)nssv17247265
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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