A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234114



Internal ID22372936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:27133964..27146135hg38UCSC Ensembl
Outerchr16:27145285..27157456hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381392
hg191392
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259721, nssv14259717, nssv14259715, nssv14259718, nssv14259716, nssv14259719, nssv14259720
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234114
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer