A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245331



Internal ID22376120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:845823..928866hg38UCSC Ensembl
Outerchr16:895823..978866hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383684
hg193684
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3086n152
Supporting Variantsnssv14260043, nssv14260046, nssv14260045, nssv14260050, nssv14260048, nssv14260049, nssv14260047, nssv14260044
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLMF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245331
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer