A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249708



Internal ID22377355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:793227..965383hg38UCSC Ensembl
Outerchr16:843227..1015383hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3842686
hg1942686
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3084n152
Supporting Variantsnssv14259962
SamplesHG00732
Known GenesCHTF18, GNG13, LMF1, PRR25
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249708
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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