A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236793



Internal ID22373692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:100673273..100711670hg38UCSC Ensembl
Outerchr14:101139610..101178007hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg385819
hg195819
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2749n152
Supporting Variantsnssv14257950, nssv14257947, nssv14257948, nssv14257949
SamplesHG00512, NA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236793
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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