A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242375



Internal ID22375258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12968928..12999405hg38UCSC Ensembl
Outerchr19:13079742..13110219hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381115
hg191115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4141n152
Supporting Variantsnssv14262609, nssv14262615, nssv14262614, nssv14262608, nssv14262611, nssv14262613, nssv14262612, nssv14262610, nssv14262607
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDAND5, NFIX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242375
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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