A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249754



Internal ID22377364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:85968193..85976281hg38UCSC Ensembl
Outerchr16:86001799..86009887hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381612
hg191612
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260411, nssv14260410
SamplesHG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249754
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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