A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248159



Internal ID22376901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:90111794..90123678hg38UCSC Ensembl
Outerchr16:90178202..90190086hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3818234
hg1918234
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3366n152
Supporting Variantsnssv14260151, nssv14260148, nssv14260147, nssv14260146, nssv14260150, nssv14260149, nssv14260412
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248159
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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