A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717751



Internal ID21744072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85171224..85171224hg38UCSC Ensembl
chr1:85636907..85636907hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250596
Samples
Known GenesSYDE2
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)nsv5717751
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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