A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4123n152



Internal ID22819826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8449527..8449834hg38UCSC Ensembl
chr19:8514411..8514718hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3186381, nsv3520419
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesHNRNPM
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)dgv4123n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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