A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246807



Internal ID22376533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:51752367..51753015hg38UCSC Ensembl
Outerchr15:52044564..52045212hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg3832811
hg1932811
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259137
SamplesHG00733
Known GenesTMOD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246807
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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