A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5544n152



Internal ID22821247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41419305..41420869hg38UCSC Ensembl
chr21:42791232..42792796hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381565
hg191565
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3243812, nsv3241663
SamplesNA19240, HG00514
Known GenesMX1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5544n152
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