A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212420



Internal ID22359674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:49296429..49340299hg38UCSC Ensembl
Outerchr3:49333862..49377732hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381405
hg191405
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270626, nssv14270621, nssv14270622, nssv14270624, nssv14270623, nssv14270625
SamplesHG00512, NA19238, HG00731, HG00733, HG00513, HG00514
Known GenesUSP4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212420
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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