A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225034



Internal ID22368288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:4592122..4610385hg38UCSC Ensembl
Outerchr2:4639712..4657975hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38853
hg19853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266802, nssv14266804, nssv14266803
SamplesNA19239, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225034
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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