A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211758



Internal ID22359218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:112029240..112037904hg38UCSC Ensembl
Outerchr6:112350443..112359107hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38843
hg19843
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278935, nssv14278934
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211758
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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