A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14424111



Internal ID22163376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:106111530..106111530hg38UCSC Ensembl
chr3:105830377..105830377hg19UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558288
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14424111
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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