A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3556279



Internal ID22425105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186654333..186654333hg38UCSC Ensembl
chr3:186372122..186372122hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg386029
hg196029
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14452013
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1HS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3556279
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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