A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224599



Internal ID22367981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:84886310..84905971hg38UCSC Ensembl
Outerchr3:84935461..84955122hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3815130
hg1915130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272168, nssv14272170, nssv14272169, nssv14272174, nssv14272172, nssv14272175, nssv14272171, nssv14272173
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224599
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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