A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211499



Internal ID22359041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:127282689..127297948hg38UCSC Ensembl
Outerchr3:127001532..127016791hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg382160
hg192160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272441, nssv14272436, nssv14272444, nssv14272438, nssv14272440, nssv14272437, nssv14272443, nssv14272442, nssv14272439
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)nsv3211499
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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