A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226458



Internal ID22369251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:157266134..157276987hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg381534
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277644, nssv14277643, nssv14277645, nssv14277646, nssv14277648, nssv14277647
SamplesNA19238, HG00731, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226458
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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