A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238599



Internal ID22374204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:11888454..11892993hg38UCSC Ensembl
Outerchr10:11930453..11934992hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg381092
hg191092
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253471
SamplesHG00514
Known GenesPROSER2-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238599
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