A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv195n152



Internal ID22815898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42277484..42277821hg38UCSC Ensembl
chr1:42743155..42743492hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3177354, nsv3523146
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFOXJ3
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)dgv195n152
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