A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3162n152



Internal ID22818865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:16280628..16427633hg38UCSC Ensembl
chr16:16374485..16521490hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38147006
hg19147006
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3230874, nsv3240200
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesLOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO3, NPIPA7, NPIPA8, PKD1P1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3162n152
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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