A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269424



Internal ID22225253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:16249871..16386099hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3897473
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242677
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269424
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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