A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717907



Internal ID21744228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:82679818..82679818hg38UCSC Ensembl
chr11:82390860..82390860hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg383974
hg193974
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240030, nssv17242260
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)nsv5717907
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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