A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242973



Internal ID21690482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185009353..185009353hg38UCSC Ensembl
chr4:185930507..185930507hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381304
hg191304
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728409
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)nssv17242973
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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