A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235701



Internal ID22373369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30439518..30467495hg38UCSC Ensembl
Outerchr16:30450839..30478816hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38794
hg19794
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259756, nssv14259760, nssv14259758, nssv14259761, nssv14259757, nssv14259759
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesSEPHS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235701
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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