A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229432



Internal ID22371289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:60869423..60899256hg38UCSC Ensembl
Outerchr16:60903327..60933160hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3829834
hg1929834
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259266, nssv14259264, nssv14259265
SamplesHG00512, NA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229432
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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