A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215839



Internal ID22362035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:57288152..57295693hg38UCSC Ensembl
Outerchr16:57322064..57329605hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg387542
hg197542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260225, nssv14260223, nssv14260226, nssv14260224
SamplesHG00512, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215839
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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