A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221232



Internal ID22365686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:73121530..73148554hg38UCSC Ensembl
Outerchr1:73587213..73614237hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg388006
hg198006
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262477, nssv14262480, nssv14262479, nssv14262478, nssv14262476, nssv14262482, nssv14262484, nssv14262481, nssv14262483
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221232
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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