A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9647n152



Internal ID22825350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:87912561..87934580hg38UCSC Ensembl
chr9:90527476..90549495hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg3822020
hg1922020
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3242961, nsv3247210
SamplesNA19238, NA19240, HG00513, HG00514
Known GenesSPATA31C1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv9647n152
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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