A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239844



Internal ID21687353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116261479..116261479hg38UCSC Ensembl
chr1:116804101..116804101hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg386012
hg196012
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719305
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)nssv17239844
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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