A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247210



Internal ID22376648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:87912561..87934580hg38UCSC Ensembl
Outerchr9:90527476..90549495hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg3810432
hg1910432
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9647n152
Supporting Variantsnssv14253134, nssv14253135, nssv14283520, nssv14283521
SamplesNA19238, NA19240, HG00513, HG00514
Known GenesSPATA31C1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247210
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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