A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237644



Internal ID21685153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:101034580..101034580hg38UCSC Ensembl
chr10:102794337..102794337hg19UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726042
Supporting Variants
Samples
Known GenesSFXN3
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)nssv17237644
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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