A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719590



Internal ID21745911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213453985..213453985hg38UCSC Ensembl
chr1:213627328..213627328hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38890
hg19890
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252045, nssv17250980
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)nsv5719590
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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