A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240391



Internal ID22374690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9663016..9715413hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg381649
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267963, nssv14267962, nssv14267960, nssv14267965, nssv14267958, nssv14267966, nssv14267964, nssv14267961, nssv14267959
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240391
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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