A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249163



Internal ID22377194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:119533829..119568143hg38UCSC Ensembl
Outerchr10:121293341..121327655hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg381337
hg191337
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1077n152
Supporting Variantsnssv14252814, nssv14252815, nssv14252813, nssv14252812
SamplesNA19238, HG00731, HG00732, HG00513
Known GenesRGS10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249163
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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