A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247107



Internal ID21694616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:89163920..89163920hg38UCSC Ensembl
chr9:91778835..91778835hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg383140
hg193140
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723989
Supporting Variants
Samples
Known GenesSHC3
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)nssv17247107
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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