A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218217



Internal ID22363629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:79354634..79393154hg38UCSC Ensembl
Outerchr6:80064351..80102871hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3827586
hg1927586
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276964, nssv14276969, nssv14276965, nssv14276967, nssv14276968, nssv14276970, nssv14276966, nssv14276963, nssv14276971
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)nsv3218217
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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