A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719627



Internal ID21745948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216866544..216866544hg38UCSC Ensembl
chr1:217039886..217039886hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239749
Samples
Known GenesESRRG
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)nsv5719627
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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