A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238595



Internal ID22374203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128214384..128216759hg38UCSC Ensembl
chr11:128084279..128086654hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg382376
hg192376
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14379288
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsDeletion variant involving LTR satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238595
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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