A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236122



Internal ID21683631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61817851..61817851hg38UCSC Ensembl
chr11:61585323..61585323hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717718
Supporting Variants
Samples
Known GenesFADS2
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)nssv17236122
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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