A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233032



Internal ID22372649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:793227..882763hg38UCSC Ensembl
Outerchr16:843227..932763hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg385085
hg195085
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3083n152
Supporting Variantsnssv14259534, nssv14259535, nssv14259533, nssv14259532
SamplesNA19238, NA19239, HG00513, HG00514
Known GenesCHTF18, GNG13, LMF1, PRR25
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233032
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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