A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216717



Internal ID22362616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:106980237..107001635hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg382838
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277028, nssv14277031, nssv14277033, nssv14277034, nssv14277032, nssv14277035, nssv14277029, nssv14277030, nssv14277027
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)nsv3216717
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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