A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230347



Internal ID22371902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:25067226..25071295hg38UCSC Ensembl
Outerchr6:25067454..25071523hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38534
hg19534
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278382, nssv14277191
SamplesNA19239, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230347
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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