A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228612



Internal ID22370742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:18124184..18909280hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38785097
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5671n152
Supporting Variantsnssv14267754, nssv14267752, nssv14267749, nssv14267755, nssv14267753, nssv14267751, nssv14267750
SamplesNA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228612
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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