A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222367



Internal ID22366465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:69518738..69536718hg38UCSC Ensembl
Outerchr10:71278494..71296474hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3817981
hg1917981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275462, nssv14275461, nssv14275459, nssv14275460
SamplesHG00512, NA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222367
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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