A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266893



Internal ID22276661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:801390..853079hg38UCSC Ensembl
Outerchr20:782033..833722hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381705
hg191705
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239739
Supporting Variants
SamplesNA19239
Known GenesFAM110A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266893
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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