A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3275666



Internal ID22377770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52465594..52465723hg38UCSC Ensembl
chr4:53331760..53331889hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14409225
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)nsv3275666
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