A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557472



Internal ID22426278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:178006204..178006204hg38UCSC Ensembl
chr4:178927358..178927358hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14451926
SamplesHG00733
Known Genes
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)nsv3557472
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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