A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240278



Internal ID22374657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:13417127..13425678hg38UCSC Ensembl
Outerchr9:13417126..13425677hg19UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg381453
hg191453
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9483n152
Supporting Variantsnssv14253153, nssv14253154
SamplesHG00732, HG00514
Known GenesFLJ41200
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240278
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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