A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727672



Internal ID21753993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113225850..113225850hg38UCSC Ensembl
chr9:115988130..115988130hg19UCSC Ensembl
Cytoband9q32
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 Variantsnssv17245786
Samples
Known GenesSLC31A1
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)nsv5727672
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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