A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9561n152



Internal ID22825264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:41969857..42219216hg38UCSC Ensembl
chr9:40475835..40735870hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38249360
hg19260036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3219127, nsv3216528, nsv3217224
SamplesHG00733, HG00514
Known GenesFAM74A3, SPATA31A3
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)dgv9561n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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