A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268228



Internal ID22199980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45049491..45084082hg38UCSC Ensembl
Outerchr22:45445372..45479963hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381042
hg191042
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244180
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268228
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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