A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269400



Internal ID22183828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38895305..38905515hg38UCSC Ensembl
Outerchr22:39291310..39301520hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3810211
hg1910211
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228208
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269400
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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