A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246930



Internal ID21694439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125123230..125123230hg38UCSC Ensembl
chr9:127885509..127885509hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg384307
hg194307
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717417
Supporting Variants
Samples
Known GenesSCAI
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)nssv17246930
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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