A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225641



Internal ID22368710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:28173230..28180537hg38UCSC Ensembl
Outerchr6:28141008..28148315hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg382061
hg192061
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275484, nssv14275489, nssv14275486, nssv14275488, nssv14275487, nssv14275485, nssv14275490
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225641
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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