A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266559



Internal ID22294995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:90237299..90301696hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3815496
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230275
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266559
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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