A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238858



Internal ID21686367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:82978337..82978337hg38UCSC Ensembl
chr11:82689379..82689379hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg381215
hg191215
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724539
Supporting Variants
Samples
Known GenesRAB30
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)nssv17238858
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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