A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724941



Internal ID21751262
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 StatusM
Merged Variants
Supporting Variantsnssv17241909
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)nsv5724941
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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