A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7485n152



Internal ID22823188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114241706..114241794hg38UCSC Ensembl
chr5:113577403..113577491hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3209476, nsv3283074
SamplesNA19239, HG00732, NA19240
Known Genes
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7485n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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