A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223230



Internal ID22367065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:139510055..139521704hg38UCSC Ensembl
Outerchr6:139831192..139842841hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg382899
hg192899
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277094, nssv14277096, nssv14277093, nssv14277092, nssv14277097, nssv14277095, nssv14277098
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223230
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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