A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9483n152



Internal ID22825186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:13414863..13425678hg38UCSC Ensembl
chr9:13414862..13425677hg19UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg3810816
hg1910816
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3237688, nsv3240278
SamplesHG00732, NA19240, HG00514
Known GenesFLJ41200
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv9483n152
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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