A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246388



Internal ID22376396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:103499869..103511572hg38UCSC Ensembl
Outerchr12:103893647..103905350hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38886
hg19886
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255432
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246388
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