A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252309



Internal ID21699818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:118960995..118960995hg38UCSC Ensembl
chr9:121723273..121723273hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg38944
hg19944
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5714404
Supporting Variants
Samples
Known Genes
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)nssv17252309
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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