A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241909



Internal ID21689418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:71898313..71898313hg38UCSC Ensembl
chr9:74513229..74513229hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724941
Supporting Variants
Samples
Known GenesABHD17B
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)nssv17241909
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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