A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268587



Internal ID22204229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35462477..35471925hg38UCSC Ensembl
Outerchr22:35858470..35867918hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231275
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268587
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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