A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557454



Internal ID22426260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:106111744..106111744hg38UCSC Ensembl
chr3:105830591..105830591hg19UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14451128
SamplesHG00733
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)nsv3557454
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer