A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245601



Internal ID22376192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:20813541..20830358hg38UCSC Ensembl
Outerchr20:20794184..20811001hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38778
hg19778
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266364, nssv14266365, nssv14266366
SamplesNA19238, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245601
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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