A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224990



Internal ID22368258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:183568319..183574157hg38UCSC Ensembl
Outerchr3:183286107..183291945hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg381190
hg191190
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272017, nssv14272013, nssv14272018, nssv14272019, nssv14272014, nssv14272020, nssv14272016, nssv14272015
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224990
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