A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728992



Internal ID21755313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:130888741..130888741hg38UCSC Ensembl
chr11:130758636..130758636hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg381605
hg191605
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249387
Samples
Known GenesSNX19
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)nsv5728992
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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