A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7653n152



Internal ID22823356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177765472..177825187hg38UCSC Ensembl
chr5:177192473..177252188hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3859716
hg1959716
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3196338, nsv3201887
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00514
Known GenesFAM153A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7653n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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