A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv79n152



Internal ID22815782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5289284..5293149hg38UCSC Ensembl
chr1:5349344..5353209hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg383866
hg193866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3190866, nsv3206757
SamplesHG00733
Known Genes
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv79n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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