A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247178



Internal ID21694687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116005410..116005410hg38UCSC Ensembl
chr1:116548031..116548031hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727124
Supporting Variants
Samples
Known GenesSLC22A15
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)nssv17247178
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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