A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229295



Internal ID22371189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:60529526..60563244hg38UCSC Ensembl
Outerchr20:59104584..59138302hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3833719
hg1933719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267196, nssv14267197
SamplesNA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229295
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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