A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246864



Internal ID21694373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:100354693..100354693hg38UCSC Ensembl
chr9:103116975..103116975hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719153
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)nssv17246864
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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