A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3556973



Internal ID22425785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181392123..181392123hg38UCSC Ensembl
chr3:181109911..181109911hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14451536, nssv14397769, nssv14424189
SamplesNA19240, HG00733, HG00514
Known GenesSOX2-OT
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1P mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3556973
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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