A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265854



Internal ID22279908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:16247290..16267971hg38UCSC Ensembl
Outerchr20:16227935..16248616hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg381113
hg191113
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236242
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265854
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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