A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247019



Internal ID22376590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:10377257..10387127hg38UCSC Ensembl
Outerchr20:10357905..10367775hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg383053
hg193053
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266439
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247019
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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