A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723866



Internal ID21750187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:15411902..15411902hg38UCSC Ensembl
chr6:15412133..15412133hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239087, nssv17246011
Samples
Known GenesJARID2
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)nsv5723866
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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