A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250237



Internal ID21697746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189124836..189124836hg38UCSC Ensembl
chr3:188842625..188842625hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722330
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)nssv17250237
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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