A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246398



Internal ID22376400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:793227..957730hg38UCSC Ensembl
Outerchr16:843227..1007730hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3812218
hg1912218
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3084n152
Supporting Variantsnssv14260747, nssv14260746, nssv14260745
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)nsv3246398
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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