A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214593



Internal ID22361207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:164131886..164153107hg38UCSC Ensembl
Outerchr6:164552918..164574139hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381035
hg191035
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278982
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214593
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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