A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721052



Internal ID21747373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100630531..100630531hg38UCSC Ensembl
chr1:101096087..101096087hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247803
Samples
Known GenesLOC100128787
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)nsv5721052
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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