A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3357n152



Internal ID22819060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89832008..89858797hg38UCSC Ensembl
chr16:89898416..89925205hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3826790
hg1926790
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3231709, nsv3235298
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesSPIRE2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3357n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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