A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245938



Internal ID21693447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132323457..132323457hg38UCSC Ensembl
chr3:132042301..132042301hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38744
hg19744
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715147
Supporting Variants
Samples
Known GenesACPP
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)nssv17245938
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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