A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244840



Internal ID21692349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94944680..94944680hg38UCSC Ensembl
chr11:94677845..94677845hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38520
hg19520
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724265
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)nssv17244840
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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