A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238480



Internal ID21685989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:20081898..20081898hg38UCSC Ensembl
chr9:20081896..20081896hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720052
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)nssv17238480
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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