A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250076



Internal ID21697585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48024746..48024746hg38UCSC Ensembl
chr16:48058657..48058657hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg383449
hg193449
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720367
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)nssv17250076
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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