A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222589



Internal ID22366621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:7345118..7375051hg38UCSC Ensembl
Outerchr5:7345231..7375164hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381476
hg191476
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275684, nssv14275683
SamplesHG00512, NA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222589
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