A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7559n152



Internal ID22823262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149629717..149660728hg38UCSC Ensembl
chr5:149009280..149040291hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3831012
hg1931012
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3219252, nsv3212122
SamplesHG00512, NA19239, NA19240, HG00733, HG00513, HG00514
Known GenesARHGEF37
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7559n152
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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