A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219023



Internal ID22364174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:30643167..30662254hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3819088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266860, nssv14266859
SamplesHG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219023
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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