A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3195n152



Internal ID22818898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28404859..28657278hg38UCSC Ensembl
chr16:28416180..28668599hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38252420
hg19252420
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3237296, nsv3250179
SamplesHG00512, NA19238, HG00514
Known GenesAPOBR, CCDC101, CLN3, EIF3C, IL27, NUPR1, SULT1A1, SULT1A2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3195n152
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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