A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242677



Internal ID22375345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:16249871..16386099hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3897473
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269423, nssv14269425, nssv14269424, nssv14269427, nssv14269426, nssv14269422
SamplesNA19238, NA19239, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242677
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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