A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246627



Internal ID21694136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62592233..62592233hg38UCSC Ensembl
chr3:62577908..62577908hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718888
Supporting Variants
Samples
Known GenesCADPS
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)nssv17246627
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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