A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227367



Internal ID22369887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9591949..9641963hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3850015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268143, nssv14268136, nssv14268137, nssv14268142, nssv14268139, nssv14268144, nssv14268138, nssv14268140, nssv14268141
SamplesHG00512, NA19238, NA19239, HG00731, 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)nsv3227367
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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