A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225430



Internal ID22368557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:20813541..20865515hg38UCSC Ensembl
Outerchr20:20794184..20846158hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3851975
hg1951975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267222
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225430
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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