A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247993



Internal ID22376852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:86979404..87021707hg38UCSC Ensembl
Outerchr9:89594319..89636622hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg382131
hg192131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9639n152
Supporting Variantsnssv14283513, nssv14283509, nssv14283507, nssv14283510, nssv14283512, nssv14283511, nssv14283508, nssv14283514
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLOC100506834, LOC440173
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247993
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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