A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238069



Internal ID21685578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:180111116..180111116hg38UCSC Ensembl
chr3:179828904..179828904hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726093
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)nssv17238069
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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