A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3277223



Internal ID22377842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127308862..127308978hg38UCSC Ensembl
chr3:127027705..127027821hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14410230
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3277223
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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