A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268794



Internal ID22135934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:26767218..26779769hg38UCSC Ensembl
Outerchr22:27163181..27175732hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3812552
hg1912552
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227362
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268794
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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