A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5365n152



Internal ID22821068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62716647..62762056hg38UCSC Ensembl
chr20:61347999..61393408hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3845410
hg1945410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3229466, nsv3215899
SamplesHG00731, HG00513
Known GenesNTSR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5365n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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