A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235298



Internal ID22373257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89832008..89858797hg38UCSC Ensembl
Outerchr16:89898416..89925205hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg381238
hg191238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3357n152
Supporting Variantsnssv14259798, nssv14259799, nssv14259802, nssv14259801, nssv14259800
SamplesHG00731, NA19240, HG00733, HG00513, HG00514
Known GenesSPIRE2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235298
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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