A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9443n152



Internal ID22825146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144596540..144627869hg38UCSC Ensembl
chr8:145821924..145853254hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3831330
hg1931331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3211928, nsv3212171
SamplesNA19240
Known GenesARHGAP39
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)dgv9443n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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