A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715591



Internal ID21741912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:28996847..28996847hg38UCSC Ensembl
chr11:29018394..29018394hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg381220
hg191220
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250773, nssv17241116
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)nsv5715591
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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