A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225490



Internal ID22368599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:46615972..46617351hg38UCSC Ensembl
Outerchr1:47081644..47083023hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38645
hg19645
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272936
SamplesHG00513
Known GenesMOB3C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225490
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