A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246594



Internal ID22376460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:13357353..13371220hg38UCSC Ensembl
Outerchr20:13338000..13351867hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg381012
hg191012
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266444
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246594
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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