A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv29n152



Internal ID22815732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2104879..2127068hg38UCSC Ensembl
chr1:2036318..2058507hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3822190
hg1922190
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3210800, nsv3214582
SamplesHG00512, HG00731, HG00733, HG00513, HG00514
Known GenesPRKCZ
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv29n152
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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