A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281716



Internal ID22380042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59574063..59574117hg38UCSC Ensembl
chr5:58869889..58869943hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7352n152
Supporting Variantsnssv14462803
SamplesHG00733
Known GenesPDE4D
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3281716
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