A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225536



Internal ID22368636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:47757439..47779727hg38UCSC Ensembl
Outerchr2:47984578..48006866hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38878
hg19878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266101, nssv14266098, nssv14266100, nssv14266102, nssv14266097, nssv14266099
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225536
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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