A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246832



Internal ID21694341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134817205..134817205hg38UCSC Ensembl
chr3:134536047..134536047hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729244
Supporting Variants
Samples
Known GenesEPHB1
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)nssv17246832
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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