A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719391



Internal ID21745712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:90619129..90619129hg38UCSC Ensembl
chr1:91084686..91084686hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250100, nssv17245943
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)nsv5719391
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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