A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723175



Internal ID21749496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41198517..41198517hg38UCSC Ensembl
chr1:41664189..41664189hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240598
Samples
Known GenesSCMH1
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)nsv5723175
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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