A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559124



Internal ID22427927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:110417995..110417995hg38UCSC Ensembl
chr10:112177753..112177753hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg381116
hg191116
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14354443, nssv14354449, nssv14354445, nssv14354448, nssv14354447, nssv14354444, nssv14354446
SamplesNA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
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)nsv3559124
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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