A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3084n152



Internal ID22818787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:793227..965383hg38UCSC Ensembl
chr16:843227..1015383hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38172157
hg19172157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3246398, nsv3249708
SamplesHG00732, NA19240, HG00514
Known GenesCHTF18, GNG13, LMF1, PRR25
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3084n152
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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