A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9764n152



Internal ID22825467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:130496953..130514128hg38UCSC Ensembl
chr9:133372340..133389515hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3817176
hg1917176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3211381, nsv3226430, nsv3214339
SamplesHG00732, HG00733
Known GenesASS1
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)dgv9764n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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