A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212729



Internal ID22359893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1334828..1392765hg38UCSC Ensembl
Outerchr16:1384829..1442766hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3857938
hg1957938
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259152, nssv14259150, nssv14259149, nssv14259146, nssv14259145, nssv14259148, nssv14259151, nssv14259147
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesBAIAP3, GNPTG, TSR3, UNKL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212729
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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