A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224829



Internal ID22368144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:39894795..39926401hg38UCSC Ensembl
Outerchr5:39894897..39926503hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg383068
hg193068
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275969, nssv14275968
SamplesHG00731, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224829
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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