A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283567



Internal ID22381915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:109228047..109228364hg38UCSC Ensembl
chr11:109098774..109099091hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1568n152
Supporting Variantsnssv14447152
SamplesHG00733
Known Genes
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)nsv3283567
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