A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246319



Internal ID22376377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89883326..89913305hg38UCSC Ensembl
Outerchr16:89949734..89979713hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg381135
hg191135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3359n152
Supporting Variantsnssv14260355, nssv14259866, nssv14259865
SamplesHG00512, HG00731, HG00732
Known GenesTCF25
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246319
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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