A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267814



Internal ID22258549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50023800..50029520hg38UCSC Ensembl
Outerchr22:50462229..50467949hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg381268
hg191268
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233984
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267814
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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