A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562714



Internal ID22431460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:101712435..101712435hg38UCSC Ensembl
chr3:101431279..101431279hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg384308
hg194308
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14309649, nssv14309648, nssv14309650
SamplesHG00732, HG00733, HG00513
Known GenesPDCL3P4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562714
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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