A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17251668



Internal ID21699177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:89159094..89159094hg38UCSC Ensembl
chr9:91774009..91774009hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729738
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)nssv17251668
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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