A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5035n152



Internal ID22820738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231808727..231853086hg38UCSC Ensembl
chr2:232673437..232717796hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3844360
hg1944360
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3220592, nsv3218409
SamplesHG00731, HG00733, HG00513, HG00514
Known GenesCOPS7B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5035n152
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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