A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222968



Internal ID22366871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:25316358..25340183hg38UCSC Ensembl
Outerchr16:25327679..25351504hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3823826
hg1923826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258710, nssv14258715, nssv14258714, nssv14258711, nssv14258712, nssv14258708, nssv14258709, nssv14258713
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222968
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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