A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245513



Internal ID21693022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:150614020..150614020hg38UCSC Ensembl
chr3:150331807..150331807hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg384536
hg194536
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729757
Supporting Variants
Samples
Known GenesSELT
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)nssv17245513
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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